Warning: The NCBI web site requires JavaScript to function. more...

dbVar

Database of genomic structural variation

nsv7013034

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:15,200

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: 483 SVs from 74 studies. See in: genome view

Submitted genomic51,629,701-51,644,900

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv7013034	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000019.10	Chr19	51,629,701	51,644,900
nsv7013034	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000019.9	Chr19	52,132,954	52,148,153

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18425507	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
nssv18425507	Submitted genomic		NC_000019.10:g.516 29701_51644900del	GRCh38 (hg38)		NC_000019.10	Chr19	51,629,701	51,644,900
nssv18425507	Remapped	Perfect	NC_000019.9:g.5213 2954_52148153del	GRCh37.p13	First Pass	NC_000019.9	Chr19	52,132,954	52,148,153

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)
nssv18425507	0.194	52829	273886

You are here: NCBI