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dbVar

Database of genomic structural variation

nsv6129431

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:1

Description:nsv5540369 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: 105 SVs from 20 studies. See in: genome view

Remapped(Score: Perfect):32,238,009-32,238,009

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6129431	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000017.11	Chr17	32,238,009	32,238,009
nsv6129431	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000017.10	Chr17	30,565,028	30,565,028

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17965133	insertion	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17965133	Remapped	Perfect	NC_000017.11:g.322 38009_32238010ins?	GRCh38.p12	First Pass	NC_000017.11	Chr17	32,238,009	32,238,009
nssv17965133	Submitted genomic		NC_000017.10:g.305 65028_30565029ins?	GRCh37 (hg19)		NC_000017.10	Chr17	30,565,028	30,565,028

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)
nssv17965133	0.02	127	6320

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