A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17689460



Internal ID113126
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:80412670..80574091hg38UCSC Ensembl
chr12:80806450..80967870hg19UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg38161422
hg19161421
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5495553
Supporting Variants
Samples
Known GenesPTPRQ
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17689460
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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