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

dbVar

Database of genomic structural variation

nsv4646977

Organism: Homo sapiens

Study:nstd186 (NCBI Curated Common Structural Variants)
Variant Type:copy number variation
Method Type:Curated
Submitted on:GRCh37

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:511

Description:nsv4218185 from gnomAD Structural Variants. For a full list of variants now included in nstd186, refer to the mapping file provided here.

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: 122 SVs from 46 studies. See in: genome view

Remapped(Score: Perfect):50,942,317-50,942,827

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv4646977	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000014.9	Chr14	50,942,317	50,942,827
nsv4646977	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000014.8	Chr14	51,409,035	51,409,545

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv16167024	deletion	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16167024	Remapped	Perfect	NC_000014.9:g.5094 2317_50942827del	GRCh38.p12	First Pass	NC_000014.9	Chr14	50,942,317	50,942,827
nssv16167024	Submitted genomic		NC_000014.8:g.5140 9035_51409545del	GRCh37 (hg19)		NC_000014.8	Chr14	51,409,035	51,409,545

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

Genotype Information

Variant Call ID	Allele Frequency (AF)	Allele Count (AC)	Allele Number (AN)
nssv16167024	0.203	4402	21684

You are here: NCBI