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dbVar

Database of genomic structural variation

nsv6741148

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:4,100

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: 168 SVs from 40 studies. See in: genome view

Submitted genomic109,919,601-109,923,700

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6741148	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000004.12	Chr4	109,919,601	109,923,700
nsv6741148	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000004.11	Chr4	110,840,757	110,844,856

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18488969	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
nssv18488969	Submitted genomic		NC_000004.12:g.109 919601_109923700de l	GRCh38 (hg38)		NC_000004.12	Chr4	109,919,601	109,923,700
nssv18488969	Remapped	Perfect	NC_000004.11:g.110 840757_110844856de l	GRCh37.p13	First Pass	NC_000004.11	Chr4	110,840,757	110,844,856

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)
nssv18488969	0.002	428	250558

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