A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv560488



Internal ID16001211
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:121747710..121748411hg38UCSC Ensembl
Innerchr12:122185616..122186317hg19UCSC Ensembl
Innerchr12:120669999..120670700hg18UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38702
hg19702
hg18702
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2925n54
Supporting Variantsnssv803646
Samples
Known GenesTMEM120B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv560488
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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