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

dbVar

Database of genomic structural variation

nsv6131683

Organism: Homo sapiens

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

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:6

Description:nsv5548804 from Byrska-Bishop et. al 2021. 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: 75 SVs from 16 studies. See in: genome view

Remapped(Score: Perfect):90,020,814-90,020,819

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6131683	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000014.9	Chr14	90,020,814	90,020,819
nsv6131683	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000014.8	Chr14	90,487,158	90,487,163

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17963789	insertion	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17963789	Remapped	Perfect	NC_000014.9:g.9002 0814_90020819ins?	GRCh38.p12	First Pass	NC_000014.9	Chr14	90,020,814	90,020,819
nssv17963789	Submitted genomic		NC_000014.8:g.9048 7158_90487163ins?	GRCh37 (hg19)		NC_000014.8	Chr14	90,487,158	90,487,163

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)
nssv17963789	0.063	402	6402

You are here: NCBI