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dbVar

Database of genomic structural variation

nsv6289847

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:7,802,039

Description:
NC_000016.9:g.21530207_29332245del 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: 22793 SVs from 141 studies. See in: genome view

Remapped(Score: Perfect):21,518,886-29,320,924

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6289847	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000016.10	Chr16	21,518,886	29,320,924
nsv6289847	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000016.9	Chr16	21,530,207	29,332,245

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17955517	deletion	Multiple	Multiple	not provided	Pathogenic	ClinVar	RCV001030428.1, VCV000830213.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17955517	Remapped	Perfect	NC_000016.10:g.215 18886_29320924del	GRCh38.p12	First Pass	NC_000016.10	Chr16	21,518,886	29,320,924
nssv17955517	Submitted genomic		NC_000016.9:g.2153 0207_29332245del	GRCh37 (hg19)		NC_000016.9	Chr16	21,530,207	29,332,245

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
nssv17955517	GRCh37: NC_000016.9:g.21530207_29332245del	deletion	germline	not provided	Pathogenic	ClinVar	RCV001030428.1, VCV000830213.1

No genotype data were submitted for this variant

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