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dbVar

Database of genomic structural variation

nsv7088423

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:2,400

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: 233 SVs from 19 studies. See in: genome view

Submitted genomic68,524,101-68,526,500

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv7088423	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000023.11	ChrX	68,524,101	68,526,500
nsv7088423	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000023.10	ChrX	67,743,943	67,746,342

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18659047	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
nssv18659047	Submitted genomic		NC_000023.11:g.685 24101_68526500dup	GRCh38 (hg38)		NC_000023.11	ChrX	68,524,101	68,526,500
nssv18659047	Remapped	Perfect	NC_000023.10:g.677 43943_67746342dup	GRCh37.p13	First Pass	NC_000023.10	ChrX	67,743,943	67,746,342

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)
nssv18659047	<0.001	47	216590

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