Warning: The NCBI web site requires JavaScript to function. more...

dbVar

Database of genomic structural variation

nsv6315082

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:764,667

Description:GRCh37/hg19 13q32.2-32.3(chr13:98865497-99630163)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: 2464 SVs from 86 studies. See in: genome view

Remapped(Score: Perfect):98,213,243-98,977,909

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv6315082	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000013.11	Chr13	98,213,243	98,977,909
nsv6315082	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000013.10	Chr13	98,865,497	99,630,163

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv17976509	copy number gain	Multiple	Multiple	not provided	Uncertain significance	ClinVar	RCV002262434.5, VCV001694714.6	3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv17976509	Remapped	Perfect	NC_000013.11:g.(?_ 98213243)_(9897790 9_?)dup	GRCh38.p12	First Pass	NC_000013.11	Chr13	98,213,243	98,977,909
nssv17976509	Submitted genomic		NC_000013.10:g.(?_ 98865497)_(9963016 3_?)dup	GRCh37 (hg19)		NC_000013.10	Chr13	98,865,497	99,630,163

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
nssv17976509	GRCh37: NC_000013.10:g.(?_98865497)_(99630163_?)dup	copy number gain	germline	not provided	Uncertain significance	ClinVar	RCV002262434.5, VCV001694714.6	3

No genotype data were submitted for this variant

You are here: NCBI