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

dbVar

Database of genomic structural variation

nsv4729074

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:534,873

Description:GRCh37/hg19 14q13.1(chr14:33463166-33998038)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: 1202 SVs from 65 studies. See in: genome view

Remapped(Score: Perfect):32,993,960-33,528,832

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4729074	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000014.9	Chr14	32,993,960	33,528,832
nsv4729074	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000014.8	Chr14	33,463,166	33,998,038

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv16255477	copy number loss	Multiple	Multiple	not provided	Likely benign	ClinVar	RCV001259657.1, VCV000980481.1	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv16255477	Remapped	Perfect	NC_000014.9:g.(?_3 2993960)_(33528832 _?)del	GRCh38.p12	First Pass	NC_000014.9	Chr14	32,993,960	33,528,832
nssv16255477	Submitted genomic		NC_000014.8:g.(?_3 3463166)_(33998038 _?)del	GRCh37 (hg19)		NC_000014.8	Chr14	33,463,166	33,998,038

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
nssv16255477	GRCh37: NC_000014.8:g.(?_33463166)_(33998038_?)del	copy number loss	germline	not provided	Likely benign	ClinVar	RCV001259657.1, VCV000980481.1	1

No genotype data were submitted for this variant

You are here: NCBI