A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17689465



Internal ID113131
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:80464128..80479564hg38UCSC Ensembl
chr12:80857907..80873343hg19UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg3815437
hg1915437
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5497457
Supporting Variants
Samples
Known GenesPTPRQ
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17689465
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000313


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