A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17057279



Internal ID106034
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:23416250..23468037hg38UCSC Ensembl
chr12:23569184..23620971hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg3851788
hg1951788
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5513786
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17057279
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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