A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17053086



Internal ID103239
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 StatusS
Merged Variantsnsv6144051
Supporting Variants
Samples
Known GenesPRH1-PRR4, TAS2R19, TAS2R30, TAS2R31, TAS2R43, TAS2R46
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17053086
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000782


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