A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17684488



Internal ID108154
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:111575132..111589734hg38UCSC Ensembl
chr12:112012936..112027538hg19UCSC Ensembl
Cytoband12q24.12
Allele length
AssemblyAllele length
hg3814603
hg1914603
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5505311
Supporting Variants
Samples
Known GenesATXN2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17684488
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000781


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