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dbVar

Database of genomic structural variation

nsv6950124

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:252

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: 134 SVs from 26 studies. See in: genome view

Submitted genomic45,214,725-45,214,976

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6950124	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000013.11	Chr13	45,214,725	45,214,976
nsv6950124	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000013.10	Chr13	45,788,860	45,789,111

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18378094	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
nssv18378094	Submitted genomic		NC_000013.11:g.452 14725_45214976del	GRCh38 (hg38)		NC_000013.11	Chr13	45,214,725	45,214,976
nssv18378094	Remapped	Perfect	NC_000013.10:g.457 88860_45789111del	GRCh37.p13	First Pass	NC_000013.10	Chr13	45,788,860	45,789,111

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)
nssv18378094	0.008	1986	262264

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