A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16915587



Internal ID11128
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:79129256..79135957hg38UCSC Ensembl
chr2:79356382..79363083hg19UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg386702
hg196702
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5440848
Supporting Variants
Samples
Known GenesREG1P
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16915587
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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