A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17690354



Internal ID114020
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:101432354..101468296hg38UCSC Ensembl
chr12:101826132..101862074hg19UCSC Ensembl
Cytoband12q23.2
Allele length
AssemblyAllele length
hg3835943
hg1935943
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5503558
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17690354
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000625


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