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dbVar

Database of genomic structural variation

nsv6290309

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:195,530

Description:GRCh37/hg19 16p13.3(chr16:2635096-2830625)x1 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: 866 SVs from 93 studies. See in: genome view

Remapped(Score: Perfect):2,585,095-2,780,624

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6290309	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000016.10	Chr16	2,585,095	2,780,624
nsv6290309	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000016.9	Chr16	2,635,096	2,830,625

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv17956002	copy number loss	Multiple	Multiple	not provided	Uncertain significance	ClinVar	RCV001795864.4, VCV001328466.4	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17956002	Remapped	Perfect	NC_000016.10:g.258 5095_2780624del	GRCh38.p12	First Pass	NC_000016.10	Chr16	2,585,095	2,780,624
nssv17956002	Submitted genomic		NC_000016.9:g.2635 096_2830625del	GRCh37 (hg19)		NC_000016.9	Chr16	2,635,096	2,830,625

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
nssv17956002	GRCh37: NC_000016.9:g.2635096_2830625del	copy number loss	unknown	not provided	Uncertain significance	ClinVar	RCV001795864.4, VCV001328466.4	1

No genotype data were submitted for this variant

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