A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5499506



Internal ID276478
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:122463160..122477489hg38UCSC Ensembl
chr12:122947707..122962036hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3814330
hg1914330
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17685095
Samples
Known GenesZCCHC8
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5499506
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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