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dbVar

Database of genomic structural variation

nsv5672603

Organism: Homo sapiens

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

Variant Calls:1
Validation:Not tested
Clinical Assertions: Yes
Region Size:5,510,543

Description:Single allele AND not provided

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: 14587 SVs from 125 studies. See in: genome view

Remapped(Score: Perfect):117,543,247-123,053,789

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5672603	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000010.11	Chr10	117,543,247	123,053,789
nsv5672603	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000010.10	Chr10	119,302,758	124,813,305

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv17173310	deletion	Multiple	Multiple	not provided	Likely pathogenic	ClinVar	RCV001391678.1, VCV001077193.1	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17173310	Remapped	Perfect	NC_000010.11:g.117 543247_123053789de l	GRCh38.p12	First Pass	NC_000010.11	Chr10	117,543,247	123,053,789
nssv17173310	Submitted genomic		NC_000010.10:g.119 302758_124813305de l	GRCh37 (hg19)		NC_000010.10	Chr10	119,302,758	124,813,305

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
nssv17173310	GRCh37: NC_000010.10:g.119302758_124813305del	deletion	de novo	not provided	Likely pathogenic	ClinVar	RCV001391678.1, VCV001077193.1	1

No genotype data were submitted for this variant

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