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dbVar

Database of genomic structural variation

nsv6791675

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:213

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: 126 SVs from 29 studies. See in: genome view

Submitted genomic126,550,454-126,550,666

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6791675	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000005.10	Chr5	126,550,454	126,550,666
nsv6791675	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000005.9	Chr5	125,886,146	125,886,358

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18506063	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
nssv18506063	Submitted genomic		NC_000005.10:g.126 550454_126550666de l	GRCh38 (hg38)		NC_000005.10	Chr5	126,550,454	126,550,666
nssv18506063	Remapped	Perfect	NC_000005.9:g.1258 86146_125886358del	GRCh37.p13	First Pass	NC_000005.9	Chr5	125,886,146	125,886,358

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)
nssv18506063	0.02	5504	265128

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