A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5505953



Internal ID282713
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:100159610..100165224hg38UCSC Ensembl
chr12:100553388..100559002hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg385615
hg195615
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17690302
Samples
Known GenesGOLGA2P5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5505953
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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