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

dbVar

Database of genomic structural variation

nsv6332918

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:187,900

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: 566 SVs from 69 studies. See in: genome view

Submitted genomic111,114,001-111,301,900

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6332918	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000001.11	Chr1	111,114,001	111,301,900
nsv6332918	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000001.10	Chr1	111,656,623	111,844,522

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18199259	duplication	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv18199259	Submitted genomic		NC_000001.11:g.111 114001_111301900du p	GRCh38 (hg38)		NC_000001.11	Chr1	111,114,001	111,301,900
nssv18199259	Remapped	Perfect	NC_000001.10:g.111 656623_111844522du p	GRCh37.p13	First Pass	NC_000001.10	Chr1	111,656,623	111,844,522

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)
nssv18199259	<0.001	38	39270

You are here: NCBI