A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16913096



Internal ID9487
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:53824950..53825001hg38UCSC Ensembl
chr2:54052087..54052138hg19UCSC Ensembl
Cytoband2p16.2
Allele length
AssemblyAllele length
hg38251
hg19251
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5398837
Supporting Variants
Samples
Known GenesGPR75-ASB3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16913096
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001405


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