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dbVar

Database of genomic structural variation

nsv6957367

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:35,300

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: 271 SVs from 39 studies. See in: genome view

Submitted genomic77,882,801-77,918,100

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6957367	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000013.11	Chr13	77,882,801	77,918,100
nsv6957367	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000013.10	Chr13	78,456,936	78,492,235

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18381106	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
nssv18381106	Submitted genomic		NC_000013.11:g.778 82801_77918100del	GRCh38 (hg38)		NC_000013.11	Chr13	77,882,801	77,918,100
nssv18381106	Remapped	Perfect	NC_000013.10:g.784 56936_78492235del	GRCh37.p13	First Pass	NC_000013.10	Chr13	78,456,936	78,492,235

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)
nssv18381106	0.002	358	237014

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