A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3526093



Internal ID18477688
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:121507127..121694571hg38UCSC Ensembl
Innerchr12:121944930..122132477hg19UCSC Ensembl
Innerchr12:120429313..120616860hg18UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38187445
hg19187548
hg18187548
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1053272
Supporting Variants
Samples
Known GenesKDM2B, MORN3, ORAI1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3526093
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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