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dbVar

Database of genomic structural variation

nsv6290316

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:5,945,988

Description:GRCh37/hg19 15q25.3-26.2(chr15:88465861-94411846)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: 16634 SVs from 118 studies. See in: genome view

Remapped(Score: Perfect):87,922,630-93,868,617

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6290316	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000015.10	Chr15	87,922,630	93,868,617
nsv6290316	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000015.9	Chr15	88,465,861	94,411,846

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv17955948	copy number loss	Multiple	Multiple	not provided	Pathogenic	ClinVar	RCV001795547.4, VCV001328111.4	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17955948	Remapped	Perfect	NC_000015.10:g.879 22630_93868617del	GRCh38.p12	First Pass	NC_000015.10	Chr15	87,922,630	93,868,617
nssv17955948	Submitted genomic		NC_000015.9:g.8846 5861_94411846del	GRCh37 (hg19)		NC_000015.9	Chr15	88,465,861	94,411,846

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
nssv17955948	GRCh37: NC_000015.9:g.88465861_94411846del	copy number loss	unknown	not provided	Pathogenic	ClinVar	RCV001795547.4, VCV001328111.4	1

No genotype data were submitted for this variant

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