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dbVar

Database of genomic structural variation

nsv6696047

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:17,409

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: 302 SVs from 61 studies. See in: genome view

Submitted genomic202,430,763-202,448,171

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6696047	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000002.12	Chr2	202,430,763	202,448,171
nsv6696047	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000002.11	Chr2	203,295,486	203,312,894

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18448257	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
nssv18448257	Submitted genomic		NC_000002.12:g.202 430763_202448171de l	GRCh38 (hg38)		NC_000002.12	Chr2	202,430,763	202,448,171
nssv18448257	Remapped	Perfect	NC_000002.11:g.203 295486_203312894de l	GRCh37.p13	First Pass	NC_000002.11	Chr2	203,295,486	203,312,894

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)
nssv18448257	0.021	5423	264216

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