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dbVar

Database of genomic structural variation

nsv6967090

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:7,027

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: 102 SVs from 26 studies. See in: genome view

Submitted genomic96,217,754-96,224,780

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6967090	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000014.9	Chr14	96,217,754	96,224,780
nsv6967090	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000014.8	Chr14	96,684,091	96,691,117

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18391722	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
nssv18391722	Submitted genomic		NC_000014.9:g.9621 7754_96224780del	GRCh38 (hg38)		NC_000014.9	Chr14	96,217,754	96,224,780
nssv18391722	Remapped	Perfect	NC_000014.8:g.9668 4091_96691117del	GRCh37.p13	First Pass	NC_000014.8	Chr14	96,684,091	96,691,117

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)
nssv18391722	0.003	757	251700

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