A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5505186



Internal ID281968
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 StatusM
Merged Variants
Supporting Variantsnssv17053057
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)nsv5505186
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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