A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5505311



Internal ID282092
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 StatusM
Merged Variants
Supporting Variantsnssv17684488
Samples
Known GenesATXN2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5505311
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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