A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5500346



Internal ID277285
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:123220151..123236039hg38UCSC Ensembl
chr12:123704698..123720586hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3815889
hg1915889
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17690779
Samples
Known GenesC12orf65, MPHOSPH9
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5500346
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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