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dbVar

Database of genomic structural variation

nsv6343721

Organism: Homo sapiens

Study:nstd223 (Sedlazeck et al. 2020)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh38

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:4,200

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

Submitted genomic64,252,101-64,256,300

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6343721	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000002.12	Chr2	64,252,101	64,256,300
nsv6343721	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000002.11	Chr2	64,479,235	64,483,434

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18089295	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv18089295	Submitted genomic		NC_000002.12:g.642 52101_64256300del	GRCh38 (hg38)		NC_000002.12	Chr2	64,252,101	64,256,300
nssv18089295	Remapped	Perfect	NC_000002.11:g.644 79235_64483434del	GRCh37.p13	First Pass	NC_000002.11	Chr2	64,479,235	64,483,434

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)
nssv18089295	0.077	2665	34728

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