A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17684718



Internal ID108384
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:116857003..116857116hg38UCSC Ensembl
chr12:117294808..117294921hg19UCSC Ensembl
Cytoband12q24.22
Allele length
AssemblyAllele length
hg38114
hg19114
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5504411
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17684718
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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