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dbVar

Database of genomic structural variation

nsv6956940

Organism: Homo sapiens

Study:nstd229 (Jun et al. 2023)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh38

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:100,300

Links to Other Resources

Overlapping Genes

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: 389 SVs from 50 studies. See in: genome view

Submitted genomic91,019,501-91,119,800

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6956940	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000013.11	Chr13	91,019,501	91,119,800
nsv6956940	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000013.10	Chr13	91,671,755	91,772,054

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18383157	deletion	Sequencing	Split read and paired-end mapping

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv18383157	Submitted genomic		NC_000013.11:g.910 19501_91119800del	GRCh38 (hg38)		NC_000013.11	Chr13	91,019,501	91,119,800
nssv18383157	Remapped	Perfect	NC_000013.10:g.916 71755_91772054del	GRCh37.p13	First Pass	NC_000013.10	Chr13	91,671,755	91,772,054

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

Complete genotype and/or allele frequency data for this study can be found on dbVar's FTP site.

Genotype Information

Variant Call ID	Allele Frequency (AF)	Allele Count (AC)	Allele Number (AN)
nssv18383157	1.8e-05	5	275810

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