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dbVar

Database of genomic structural variation

nsv4769385

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:438,132

Description:GRCh37/hg19 9q34.11(chr9:131282528-131720659)x3 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: 2000 SVs from 81 studies. See in: genome view

Remapped(Score: Perfect):128,520,249-128,958,380

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv4769385	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000009.12	Chr9	128,520,249	128,958,380
nsv4769385	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000009.11	Chr9	131,282,528	131,720,659

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv16297075	copy number gain	Multiple	Multiple	not provided	Uncertain significance	ClinVar	RCV001270669.4, VCV000988939.4	3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16297075	Remapped	Perfect	NC_000009.12:g.128 520249_128958380du p	GRCh38.p12	First Pass	NC_000009.12	Chr9	128,520,249	128,958,380
nssv16297075	Submitted genomic		NC_000009.11:g.131 282528_131720659du p	GRCh37 (hg19)		NC_000009.11	Chr9	131,282,528	131,720,659

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
nssv16297075	GRCh37: NC_000009.11:g.131282528_131720659dup	copy number gain	unknown	not provided	Uncertain significance	ClinVar	RCV001270669.4, VCV000988939.4	3

No genotype data were submitted for this variant

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