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

dbVar

Database of genomic structural variation

nsv3905716

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:copy number variation
Method Type:Multiple
Submitted on:GRCh37

Variant Calls:2
Validation:Not tested
Clinical Assertions: Yes
Region Size:241,384

Description:
See descriptions for individual calls in download files

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: 768 SVs from 66 studies. See in: genome view

Remapped(Score: Perfect):91,409,801-91,651,184

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv3905716	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000013.11	Chr13	91,409,801	91,651,184
nsv3905716	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000013.10	Chr13	92,062,055	92,303,438

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15141223	copy number loss	Multiple	Multiple	See cases	conflicting data from submitters	ClinVar	RCV000510610.2, VCV000441542.2	1
nssv17969611	copy number loss	Multiple	Multiple	not specified	Uncertain significance	ClinVar	RCV002053075.3, VCV001527789.3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15141223	Remapped	Perfect	NC_000013.11:g.(?_ 91409801)_(9165118 4_?)del	GRCh38.p12	First Pass	NC_000013.11	Chr13	91,409,801	91,651,184
nssv17969611	Remapped	Perfect	NC_000013.11:g.(?_ 91409801)_(9165118 4_?)del	GRCh38.p12	First Pass	NC_000013.11	Chr13	91,409,801	91,651,184
nssv15141223	Submitted genomic		NC_000013.10:g.(?_ 92062055)_(9230343 8_?)del	GRCh37 (hg19)		NC_000013.10	Chr13	92,062,055	92,303,438
nssv17969611	Submitted genomic		NC_000013.10:g.(?_ 92062055)_(9230343 8_?)del	GRCh37 (hg19)		NC_000013.10	Chr13	92,062,055	92,303,438

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
nssv15141223	GRCh37: NC_000013.10:g.(?_92062055)_(92303438_?)del	copy number loss	see ClinVar for details	See cases	conflicting data from submitters	ClinVar	RCV000510610.2, VCV000441542.2	1
nssv17969611	GRCh37: NC_000013.10:g.(?_92062055)_(92303438_?)del	copy number loss	germline	not specified	Uncertain significance	ClinVar	RCV002053075.3, VCV001527789.3

No genotype data were submitted for this variant

You are here: NCBI