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dbVar

Database of genomic structural variation

nsv6981206

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:1,646

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

Submitted genomic35,703,281-35,704,926

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6981206	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000017.11	Chr17	35,703,281	35,704,926
nsv6981206	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000017.10	Chr17	34,030,300	34,031,945

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18408052	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
nssv18408052	Submitted genomic		NC_000017.11:g.357 03281_35704926del	GRCh38 (hg38)		NC_000017.11	Chr17	35,703,281	35,704,926
nssv18408052	Remapped	Perfect	NC_000017.10:g.340 30300_34031945del	GRCh37.p13	First Pass	NC_000017.10	Chr17	34,030,300	34,031,945

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)
nssv18408052	0.001	351	252482

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