A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5497506



Internal ID274538
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:110294303..110294692hg38UCSC Ensembl
chr12:110732108..110732497hg19UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg38390
hg19390
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17684418
Samples
Known GenesATP2A2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5497506
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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