A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5512936



Internal ID289478
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:133139966..133249374hg38UCSC Ensembl
chr12:133716552..133825960hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38109409
hg19109409
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17685777
Samples
Known GenesANHX, ZNF10, ZNF268
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5512936
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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