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dbVar

Database of genomic structural variation

nsv7082304

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:4,500

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: 252 SVs from 18 studies. See in: genome view

Submitted genomic110,231,001-110,235,500

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv7082304	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000023.11	ChrX	110,231,001	110,235,500
nsv7082304	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000023.10	ChrX	109,474,229	109,478,728

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18654162	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
nssv18654162	Submitted genomic		NC_000023.11:g.110 231001_110235500du p	GRCh38 (hg38)		NC_000023.11	ChrX	110,231,001	110,235,500
nssv18654162	Remapped	Perfect	NC_000023.10:g.109 474229_109478728du p	GRCh37.p13	First Pass	NC_000023.10	ChrX	109,474,229	109,478,728

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)
nssv18654162	0.001	242	216652

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