A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16896265



Internal ID171655
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:216058135..216058664hg38UCSC Ensembl
chr1:216231477..216232006hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg38530
hg19530
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5446812
Supporting Variants
Samples
Known GenesUSH2A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16896265
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.072432


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer