A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3519330



Internal ID18470925
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 StatusS
Merged Variantsnsv1050050
Supporting Variants
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)nssv3519330
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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