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

dbVar

Database of genomic structural variation

nsv6308848

Organism: Homo sapiens

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

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:52

Description:nsv5559131 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: 135 SVs from 28 studies. See in: genome view

Remapped(Score: Perfect):99,264,748-99,264,799

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6308848	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000004.12	Chr4	99,264,748	99,264,799
nsv6308848	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000004.11	Chr4	100,185,905	100,185,956

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17666714	line1 insertion	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17666714	Remapped	Perfect	NC_000004.12:g.992 64748_99264799ins?	GRCh38.p12	First Pass	NC_000004.12	Chr4	99,264,748	99,264,799
nssv17666714	Submitted genomic		NC_000004.11:g.100 185905_100185956in s?	GRCh37 (hg19)		NC_000004.11	Chr4	100,185,905	100,185,956

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)
nssv17666714	0.051	325	6404

You are here: NCBI