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dbVar

Database of genomic structural variation

nsv6792238

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:1,300

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: 166 SVs from 41 studies. See in: genome view

Submitted genomic177,710,101-177,711,400

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6792238	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000005.10	Chr5	177,710,101	177,711,400
nsv6792238	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000005.9	Chr5	177,137,102	177,138,401

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18510446	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
nssv18510446	Submitted genomic		NC_000005.10:g.177 710101_177711400de l	GRCh38 (hg38)		NC_000005.10	Chr5	177,710,101	177,711,400
nssv18510446	Remapped	Perfect	NC_000005.9:g.1771 37102_177138401del	GRCh37.p13	First Pass	NC_000005.9	Chr5	177,137,102	177,138,401

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)
nssv18510446	0.003	871	260044

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