A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5501224



Internal ID278129
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:53939754..53939929hg38UCSC Ensembl
chr12:54333538..54333713hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg38176
hg19176
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17056942
Samples
Known GenesHOXC13
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5501224
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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