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

dbVar

Database of genomic structural variation

nsv6439962

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:13,419

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: 99 SVs from 28 studies. See in: genome view

Submitted genomic30,321,025-30,334,443

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6439962	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000011.10	Chr11	30,321,025	30,334,443
nsv6439962	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000011.9	Chr11	30,342,572	30,355,990

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18179226	duplication	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv18179226	Submitted genomic		NC_000011.10:g.303 21025_30334443dup	GRCh38 (hg38)		NC_000011.10	Chr11	30,321,025	30,334,443
nssv18179226	Remapped	Perfect	NC_000011.9:g.3034 2572_30355990dup	GRCh37.p13	First Pass	NC_000011.9	Chr11	30,342,572	30,355,990

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)
nssv18179226	<0.001	1	39264

You are here: NCBI