A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17684527



Internal ID108193
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:111998128..112007000hg38UCSC Ensembl
chr12:112435932..112444804hg19UCSC Ensembl
Cytoband12q24.13
Allele length
AssemblyAllele length
hg388873
hg198873
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6142984
Supporting Variants
Samples
Known GenesTMEM116
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17684527
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000938


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