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dbVar

Database of genomic structural variation

nsv6991263

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:3,200

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: 115 SVs from 44 studies. See in: genome view

Submitted genomic31,910,101-31,913,300

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6991263	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000016.10	Chr16	31,910,101	31,913,300
nsv6991263	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000016.9	Chr16	31,921,422	31,924,621

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18400535	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
nssv18400535	Submitted genomic		NC_000016.10:g.319 10101_31913300del	GRCh38 (hg38)		NC_000016.10	Chr16	31,910,101	31,913,300
nssv18400535	Remapped	Perfect	NC_000016.9:g.3192 1422_31924621del	GRCh37.p13	First Pass	NC_000016.9	Chr16	31,921,422	31,924,621

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)
nssv18400535	0.012	2986	251140

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