A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv560466



Internal ID16001189
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:121747352..121747993hg38UCSC Ensembl
Innerchr12:122185258..122185899hg19UCSC Ensembl
Innerchr12:120669641..120670282hg18UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38642
hg19642
hg18642
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2920n54
Supporting Variantsnssv803473, nssv803471, nssv803469, nssv803470, nssv803472
Samples
Known GenesTMEM120B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv560466
Frequency
Sample Size17421
Observed Gain1
Observed Loss4
Observed Complex0
Frequencyn/a


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