A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1054105



Internal ID18796636
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:55434435..55477128hg38UCSC Ensembl
Innerchr12:55828219..55870912hg19UCSC Ensembl
Innerchr12:54114486..54157179hg18UCSC Ensembl
Cytoband12q13.2
Allele length
AssemblyAllele length
hg3842694
hg1942694
hg1842694
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3712491
Samples
Known GenesOR6C2, OR6C70
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1054105
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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