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dbVar

Database of genomic structural variation

nsv6112780

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:10,067,018

Description:GRCh37/hg19 15q26.1-26.3(chr15:92335751-102399741)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: 31693 SVs from 131 studies. See in: genome view

Remapped(Score: Good):91,792,521-101,859,538

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6112780	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000015.10	Chr15	91,792,521	101,859,538
nsv6112780	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000015.9	Chr15	92,335,751	102,399,741

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv17649872	copy number loss	Multiple	Multiple	not provided	Pathogenic	ClinVar	RCV001537887.4, VCV001180505.4	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17649872	Remapped	Good	NC_000015.10:g.917 92521_101859538del	GRCh38.p12	First Pass	NC_000015.10	Chr15	91,792,521	101,859,538
nssv17649872	Submitted genomic		NC_000015.9:g.9233 5751_102399741del	GRCh37 (hg19)		NC_000015.9	Chr15	92,335,751	102,399,741

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
nssv17649872	GRCh37: NC_000015.9:g.92335751_102399741del	copy number loss	unknown	not provided	Pathogenic	ClinVar	RCV001537887.4, VCV001180505.4	1

No genotype data were submitted for this variant

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