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dbVar

Database of genomic structural variation

nsv6924158

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:296

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: 125 SVs from 39 studies. See in: genome view

Submitted genomic92,103,847-92,104,142

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6924158	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000012.12	Chr12	92,103,847	92,104,142
nsv6924158	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000012.11	Chr12	92,497,623	92,497,918

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18374332	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
nssv18374332	Submitted genomic		NC_000012.12:g.921 03847_92104142del	GRCh38 (hg38)		NC_000012.12	Chr12	92,103,847	92,104,142
nssv18374332	Remapped	Perfect	NC_000012.11:g.924 97623_92497918del	GRCh37.p13	First Pass	NC_000012.11	Chr12	92,497,623	92,497,918

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)
nssv18374332	0.052	10976	221128

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