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dbVar

Database of genomic structural variation

nsv6129849

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:46

Description:nsv5534230 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: 93 SVs from 24 studies. See in: genome view

Remapped(Score: Perfect):10,068,961-10,069,006

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6129849	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000020.11	Chr20	10,068,961	10,069,006
nsv6129849	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000020.10	Chr20	10,049,609	10,049,654

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17966151	insertion	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17966151	Remapped	Perfect	NC_000020.11:g.100 68961_10069006ins?	GRCh38.p12	First Pass	NC_000020.11	Chr20	10,068,961	10,069,006
nssv17966151	Submitted genomic		NC_000020.10:g.100 49609_10049654ins?	GRCh37 (hg19)		NC_000020.10	Chr20	10,049,609	10,049,654

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)
nssv17966151	0.011	72	6404

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