A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3708752



Internal ID18660347
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:11068228..11155563hg38UCSC Ensembl
Innerchr12:11220827..11308162hg19UCSC Ensembl
Innerchr12:11112094..11199429hg18UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3887336
hg1987336
hg1887336
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1043344
Supporting Variants
Samples
Known GenesPRH1-PRR4, TAS2R30, TAS2R43
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3708752
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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