A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17690302



Internal ID113968
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 StatusS
Merged Variantsnsv5505953
Supporting Variants
Samples
Known GenesGOLGA2P5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17690302
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000625


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