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dbVar

Database of genomic structural variation

nsv6994190

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:940

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: 106 SVs from 28 studies. See in: genome view

Submitted genomic29,266,195-29,267,134

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6994190	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000017.11	Chr17	29,266,195	29,267,134
nsv6994190	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000017.10	Chr17	27,593,213	27,594,152

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18406332	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
nssv18406332	Submitted genomic		NC_000017.11:g.292 66195_29267134del	GRCh38 (hg38)		NC_000017.11	Chr17	29,266,195	29,267,134
nssv18406332	Remapped	Perfect	NC_000017.10:g.275 93213_27594152del	GRCh37.p13	First Pass	NC_000017.10	Chr17	27,593,213	27,594,152

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)
nssv18406332	0.003	810	268824

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