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dbVar

Database of genomic structural variation

nsv6925989

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:187

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: 77 SVs from 22 studies. See in: genome view

Submitted genomic109,983,745-109,983,931

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6925989	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000012.12	Chr12	109,983,745	109,983,931
nsv6925989	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000012.11	Chr12	110,421,550	110,421,736

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18594211	duplication	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
nssv18594211	Submitted genomic		NC_000012.12:g.109 983745_109983931du p	GRCh38 (hg38)		NC_000012.12	Chr12	109,983,745	109,983,931
nssv18594211	Remapped	Perfect	NC_000012.11:g.110 421550_110421736du p	GRCh37.p13	First Pass	NC_000012.11	Chr12	110,421,550	110,421,736

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)
nssv18594211	4e-06	1	231046

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