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dbVar

Database of genomic structural variation

nsv7005551

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:134

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: 346 SVs from 21 studies. See in: genome view

Submitted genomic76,120,879-76,121,012

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv7005551	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000018.10	Chr18	76,120,879	76,121,012
nsv7005551	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000018.9	Chr18	73,832,834	73,832,967

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18420110	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
nssv18420110	Submitted genomic		NC_000018.10:g.761 20879_76121012del	GRCh38 (hg38)		NC_000018.10	Chr18	76,120,879	76,121,012
nssv18420110	Remapped	Perfect	NC_000018.9:g.7383 2834_73832967del	GRCh37.p13	First Pass	NC_000018.9	Chr18	73,832,834	73,832,967

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)
nssv18420110	0.003	653	261064

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