A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16975991



Internal ID51392
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:160112685..160112685hg38UCSC Ensembl
chr5:159539692..159539692hg19UCSC Ensembl
Cytoband5q33.3
Allele length
AssemblyAllele length
hg3872
hg1972
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5545937
Supporting Variants
Samples
Known GenesPWWP2A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16975991
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.002185


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