A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv560474



Internal ID16001197
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:121747403..121747993hg38UCSC Ensembl
Innerchr12:122185309..122185899hg19UCSC Ensembl
Innerchr12:120669692..120670282hg18UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38591
hg19591
hg18591
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2921n54
Supporting Variantsnssv803598, nssv803599, nssv803600
Samples
Known GenesTMEM120B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv560474
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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