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dbVar

Database of genomic structural variation

nsv6953996

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:64,000

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: 482 SVs from 77 studies. See in: genome view

Submitted genomic20,889,601-20,953,600

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6953996	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000014.9	Chr14	20,889,601	20,953,600
nsv6953996	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000014.8	Chr14	21,357,760	21,421,759

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18383909	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
nssv18383909	Submitted genomic		NC_000014.9:g.2088 9601_20953600del	GRCh38 (hg38)		NC_000014.9	Chr14	20,889,601	20,953,600
nssv18383909	Remapped	Perfect	NC_000014.8:g.2135 7760_21421759del	GRCh37.p13	First Pass	NC_000014.8	Chr14	21,357,760	21,421,759

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)
nssv18383909	0.019	4460	255164

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