A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6144051



Internal ID343253
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:11002000..11135000hg38UCSC Ensembl
chr12:11154599..11287599hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg38133001
hg19133001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17053086
Samples
Known GenesPRH1-PRR4, TAS2R19, TAS2R30, TAS2R31, TAS2R43, TAS2R46
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6144051
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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