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dbVar

Database of genomic structural variation

nsv3875336

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:copy number variation
Method Type:Multiple
Submitted on:GRCh37, NCBI36

Variant Calls:1
Validation:Not tested
Clinical Assertions: Yes
Region Size:4,335,905

Description:GRCh37/hg19 1q21.1-21.2(chr1:143721526-149232481)x1 AND See cases

Links to Other Resources

Source: NCBI

Genome View
Variant Region Details and Evidence
Validation Information
Clinical Assertions
Genotype Information

Genome View

Select assembly:

Overlapping variant regions from other studies: 4054 SVs from 100 studies. See in: genome view

Remapped(Score: Pass):58,093,723-62,429,627

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv3875336	Remapped	Pass	GRCh38.p12	Primary Assembly	Second Pass	NC_000007.14	Chr7	58,093,723	62,429,627
nsv3875336	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000001.10	Chr1	143,721,526	149,232,481
nsv3875336	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000001.9	Chr1	142,513,049	147,499,105

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15132982	copy number loss	Multiple	Multiple	See cases	Pathogenic	ClinVar	RCV000053700.4, VCV000059832.1	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15132982	Remapped	Pass	NC_000007.14:g.(?_ 58093723)_(6242962 7_?)del	GRCh38.p12	Second Pass	NC_000007.14	Chr7	58,093,723	62,429,627
nssv15132982	Submitted genomic		NC_000001.10:g.(?_ 143721526)_(149232 481_?)del	GRCh37 (hg19)		NC_000001.10	Chr1	143,721,526	149,232,481
nssv15132982	Submitted genomic		NC_000001.9:g.(?_1 42513049)_(1474991 05_?)del	NCBI36 (hg18)		NC_000001.9	Chr1	142,513,049	147,499,105

No validation data were submitted for this variant

Clinical Assertions

Variant Call ID	HGVS	Type	Allele Origin	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15132982	GRCh37: NC_000001.10:g.(?_143721526)_(149232481_?)del, NCBI36: NC_000001.9:g.(?_142513049)_(147499105_?)del	copy number loss	not provided	See cases	Pathogenic	ClinVar	RCV000053700.4, VCV000059832.1	1

No genotype data were submitted for this variant

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