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dbVar

Database of genomic structural variation

nsv6982316

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:10,334

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: 243 SVs from 43 studies. See in: genome view

Submitted genomic36,976,051-36,986,384

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6982316	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000017.11	Chr17	36,976,051	36,986,384
nsv6982316	Remapped	Perfect	GRCh37.p13	Primary Assembly	Second Pass	NC_000017.10	Chr17	35,333,350	35,343,683

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18408140	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
nssv18408140	Submitted genomic		NC_000017.11:g.369 76051_36986384del	GRCh38 (hg38)		NC_000017.11	Chr17	36,976,051	36,986,384
nssv18408140	Remapped	Perfect	NC_000017.10:g.353 33350_35343683del	GRCh37.p13	Second Pass	NC_000017.10	Chr17	35,333,350	35,343,683

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)
nssv18408140	4.6e-05	13	275500

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