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dbVar

Database of genomic structural variation

nsv6129296

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:221

Description:nsv5543265 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: 133 SVs from 46 studies. See in: genome view

Remapped(Score: Perfect):28,781,368-28,781,588

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6129296	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000022.11	Chr22	28,781,368	28,781,588
nsv6129296	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000022.10	Chr22	29,177,356	29,177,576

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17960347	insertion	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17960347	Remapped	Perfect	NC_000022.11:g.287 81368_28781588ins?	GRCh38.p12	First Pass	NC_000022.11	Chr22	28,781,368	28,781,588
nssv17960347	Submitted genomic		NC_000022.10:g.291 77356_29177576ins?	GRCh37 (hg19)		NC_000022.10	Chr22	29,177,356	29,177,576

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)
nssv17960347	0.823	5274	6404

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