A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5497064



Internal ID274123
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:116859187..116859311hg38UCSC Ensembl
chr12:117296992..117297116hg19UCSC Ensembl
Cytoband12q24.22
Allele length
AssemblyAllele length
hg38125
hg19125
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17684719
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5497064
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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