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dbVar

Database of genomic structural variation

nsv6121025

Organism: Homo sapiens

Study:nstd186 (NCBI Curated Common Structural Variants)
Variant Type:copy number variation
Method Type:Curated
Submitted on:GRCh37

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:139

Description:nsv5498132 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: 94 SVs from 21 studies. See in: genome view

Remapped(Score: Perfect):28,990,861-28,990,999

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6121025	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000013.11	Chr13	28,990,861	28,990,999
nsv6121025	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000013.10	Chr13	29,564,998	29,565,136

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17962728	duplication	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17962728	Remapped	Perfect	NC_000013.11:g.289 90861_28990999dup	GRCh38.p12	First Pass	NC_000013.11	Chr13	28,990,861	28,990,999
nssv17962728	Submitted genomic		NC_000013.10:g.295 64998_29565136dup	GRCh37 (hg19)		NC_000013.10	Chr13	29,564,998	29,565,136

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)
nssv17962728	0.016	100	6404

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