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

dbVar

Database of genomic structural variation

nsv6619392

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:357,513

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: 849 SVs from 83 studies. See in: genome view

Submitted genomic48,192,537-48,550,049

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6619392	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000007.14	Chr7	48,192,537	48,550,049
nsv6619392	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000007.13	Chr7	48,232,134	48,589,645

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18155466	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv18155466	Submitted genomic		NC_000007.14:g.481 92537_48550049del	GRCh38 (hg38)		NC_000007.14	Chr7	48,192,537	48,550,049
nssv18155466	Remapped	Perfect	NC_000007.13:g.482 32134_48589645del	GRCh37.p13	First Pass	NC_000007.13	Chr7	48,232,134	48,589,645

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)
nssv18155466	<0.001	2	39280

You are here: NCBI