A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17685722



Internal ID109388
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:132743277..132747830hg38UCSC Ensembl
chr12:133319863..133324416hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg384554
hg194554
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5513843
Supporting Variants
Samples
Known GenesANKLE2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17685722
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000468


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