A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17053057



Internal ID103219
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:10720422..10881006hg38UCSC Ensembl
chr12:10873021..11033605hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg38160585
hg19160585
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5505186
Supporting Variants
Samples
Known GenesPRH1, PRH1-PRR4, PRR4, TAS2R10, TAS2R7, TAS2R8, TAS2R9, YBX3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17053057
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000625


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