Warning: The NCBI web site requires JavaScript to function. more...

dbVar

Database of genomic structural variation

nsv6337886

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:447

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: 92 SVs from 21 studies. See in: genome view

Submitted genomic230,949,578-230,950,024

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6337886	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000002.12	Chr2	230,949,578	230,950,024
nsv6337886	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000002.11	Chr2	231,814,293	231,814,739

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18086545	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv18086545	Submitted genomic		NC_000002.12:g.230 949578_230950024de l	GRCh38 (hg38)		NC_000002.12	Chr2	230,949,578	230,950,024
nssv18086545	Remapped	Perfect	NC_000002.11:g.231 814293_231814739de l	GRCh37.p13	First Pass	NC_000002.11	Chr2	231,814,293	231,814,739

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)
nssv18086545	0.002	53	32930

You are here: NCBI