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dbVar

Database of genomic structural variation

nsv7092461

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:2,518

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: 246 SVs from 29 studies. See in: genome view

Submitted genomic73,974,299-73,976,816

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv7092461	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000023.11	ChrX	73,974,299	73,976,816
nsv7092461	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000023.10	ChrX	73,194,134	73,196,651

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18453420	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
nssv18453420	Submitted genomic		NC_000023.11:g.739 74299_73976816del	GRCh38 (hg38)		NC_000023.11	ChrX	73,974,299	73,976,816
nssv18453420	Remapped	Perfect	NC_000023.10:g.731 94134_73196651del	GRCh37.p13	First Pass	NC_000023.10	ChrX	73,194,134	73,196,651

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)
nssv18453420	0.001	217	216783

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