A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17053083



Internal ID103237
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:10984400..10989248hg38UCSC Ensembl
chr12:11136999..11141847hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg384849
hg194849
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5511203
Supporting Variants
Samples
Known GenesPRH1-PRR4, TAS2R50
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17053083
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.001718


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