A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5502014



Internal ID278893
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:132734577..132735404hg38UCSC Ensembl
chr12:133311163..133311990hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38828
hg19828
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17685720
Samples
Known GenesANKLE2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5502014
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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