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

dbVar

Database of genomic structural variation

nsv6485840

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:682,900

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: 1599 SVs from 87 studies. See in: genome view

Submitted genomic69,462,501-70,145,400

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6485840	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000014.9	Chr14	69,462,501	70,145,400
nsv6485840	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000014.8	Chr14	69,929,218	70,612,117

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18178024	duplication	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv18178024	Submitted genomic		NC_000014.9:g.6946 2501_70145400dup	GRCh38 (hg38)		NC_000014.9	Chr14	69,462,501	70,145,400
nssv18178024	Remapped	Perfect	NC_000014.8:g.6992 9218_70612117dup	GRCh37.p13	First Pass	NC_000014.8	Chr14	69,929,218	70,612,117

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)
nssv18178024	<0.001	4	38478

You are here: NCBI