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

dbVar

Database of genomic structural variation

nsv6550262

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:3,718

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: 145 SVs from 20 studies. See in: genome view

Submitted genomic44,377,109-44,380,826

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6550262	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000020.11	Chr20	44,377,109	44,380,826
nsv6550262	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000020.10	Chr20	43,005,749	43,009,466

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18067823	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv18067823	Submitted genomic		NC_000020.11:g.443 77109_44380826del	GRCh38 (hg38)		NC_000020.11	Chr20	44,377,109	44,380,826
nssv18067823	Remapped	Perfect	NC_000020.10:g.430 05749_43009466del	GRCh37.p13	First Pass	NC_000020.10	Chr20	43,005,749	43,009,466

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)
nssv18067823	<0.001	6	38732

You are here: NCBI