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dbVar

Database of genomic structural variation

nsv6295017

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:nsv5409657 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: 171 SVs from 16 studies. See in: genome view

Remapped(Score: Perfect):23,695,391-23,695,442

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6295017	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000008.11	Chr8	23,695,391	23,695,442
nsv6295017	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000008.10	Chr8	23,552,904	23,552,955

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17653480	alu insertion	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17653480	Remapped	Perfect	NC_000008.11:g.236 95391_23695442ins?	GRCh38.p12	First Pass	NC_000008.11	Chr8	23,695,391	23,695,442
nssv17653480	Submitted genomic		NC_000008.10:g.235 52904_23552955ins?	GRCh37 (hg19)		NC_000008.10	Chr8	23,552,904	23,552,955

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)
nssv17653480	0.056	356	6404

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