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

dbVar

Database of genomic structural variation

nsv6294523

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:nsv5410702 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: 139 SVs from 40 studies. See in: genome view

Remapped(Score: Perfect):55,886,334-55,886,385

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6294523	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000011.10	Chr11	55,886,334	55,886,385
nsv6294523	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000011.9	Chr11	55,653,810	55,653,861

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17674161	alu insertion	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17674161	Remapped	Perfect	NC_000011.10:g.558 86334_55886385ins?	GRCh38.p12	First Pass	NC_000011.10	Chr11	55,886,334	55,886,385
nssv17674161	Submitted genomic		NC_000011.9:g.5565 3810_55653861ins?	GRCh37 (hg19)		NC_000011.9	Chr11	55,653,810	55,653,861

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)
nssv17674161	0.765	4897	6404

You are here: NCBI