A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5496837



Internal ID273904
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:110300041..110300169hg38UCSC Ensembl
chr12:110737846..110737974hg19UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg38129
hg19129
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17684419
Samples
Known GenesATP2A2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5496837
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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