A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1045950



Internal ID18788481
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:55360325..55440504hg38UCSC Ensembl
Innerchr12:55754109..55834288hg19UCSC Ensembl
Innerchr12:54040376..54120555hg18UCSC Ensembl
Cytoband12q13.2
Allele length
AssemblyAllele length
hg3880180
hg1980180
hg1880180
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3523598
Samples
Known GenesOR6C65, OR6C75, OR6C76
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1045950
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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