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dbVar

Database of genomic structural variation

nsv6696802

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:817

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: 201 SVs from 52 studies. See in: genome view

Submitted genomic106,078,622-106,079,438

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6696802	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000002.12	Chr2	106,078,622	106,079,438
nsv6696802	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000002.11	Chr2	106,695,078	106,695,894

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18439518	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
nssv18439518	Submitted genomic		NC_000002.12:g.106 078622_106079438de l	GRCh38 (hg38)		NC_000002.12	Chr2	106,078,622	106,079,438
nssv18439518	Remapped	Perfect	NC_000002.11:g.106 695078_106695894de l	GRCh37.p13	First Pass	NC_000002.11	Chr2	106,695,078	106,695,894

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)
nssv18439518	0.436	118183	269832

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