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dbVar

Database of genomic structural variation

nsv6705578

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:5,185

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: 272 SVs from 50 studies. See in: genome view

Submitted genomic237,645,372-237,650,556

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6705578	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000002.12	Chr2	237,645,372	237,650,556
nsv6705578	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000002.11	Chr2	238,554,015	238,559,199

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18462147	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
nssv18462147	Submitted genomic		NC_000002.12:g.237 645372_237650556de l	GRCh38 (hg38)		NC_000002.12	Chr2	237,645,372	237,650,556
nssv18462147	Remapped	Perfect	NC_000002.11:g.238 554015_238559199de l	GRCh37.p13	First Pass	NC_000002.11	Chr2	238,554,015	238,559,199

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)
nssv18462147	0.009	2495	275750

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