A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3708748



Internal ID18660343
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:11012518..11131235hg38UCSC Ensembl
Innerchr12:11165117..11283834hg19UCSC Ensembl
Innerchr12:11056384..11175101hg18UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg38118718
hg19118718
hg18118718
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1038709
Supporting Variants
Samples
Known GenesPRH1-PRR4, TAS2R19, TAS2R31, TAS2R43, TAS2R46
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3708748
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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