A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17685075



Internal ID108741
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:122210640..122210823hg38UCSC Ensembl
chr12:122695187..122695370hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38184
hg19184
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5507780
Supporting Variants
Samples
Known GenesDIABLO
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17685075
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.011708


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