A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17688712



Internal ID112378
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:66276673..66308500hg38UCSC Ensembl
chr12:66670453..66702280hg19UCSC Ensembl
Cytoband12q14.3
Allele length
AssemblyAllele length
hg3831828
hg1931828
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5495009
Supporting Variants
Samples
Known GenesHELB
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17688712
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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