A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1050050



Internal ID18792581
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:11039447..11283425hg38UCSC Ensembl
Innerchr12:11192046..11436359hg19UCSC Ensembl
Innerchr12:11083313..11327626hg18UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg38243979
hg19244314
hg18244314
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3519330
Samples
Known GenesLOC100129361, PRB3, PRH1-PRR4, TAS2R30, TAS2R42, 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)nsv1050050
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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