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dbVar

Database of genomic structural variation

nsv6130794

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:34

Description:nsv5544625 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: 632 SVs from 46 studies. See in: genome view

Remapped(Score: Pass):19,190,619-19,190,652

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6130794	Remapped	Pass	GRCh38.p12	Primary Assembly	First Pass	NC_000022.11	Chr22	19,190,619	19,190,652
nsv6130794	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000022.10	Chr22	19,178,131	19,178,162

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17968385	insertion	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17968385	Remapped	Pass	NC_000022.11:g.191 90619_19190652ins?	GRCh38.p12	First Pass	NC_000022.11	Chr22	19,190,619	19,190,652
nssv17968385	Submitted genomic		NC_000022.10:g.191 78131_19178162ins?	GRCh37 (hg19)		NC_000022.10	Chr22	19,178,131	19,178,162

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)
nssv17968385	0.037	226	6160

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