A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv560463



Internal ID16001186
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:121747352..121747710hg38UCSC Ensembl
Innerchr12:122185258..122185616hg19UCSC Ensembl
Innerchr12:120669641..120669999hg18UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38359
hg19359
hg18359
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv803439
Samples
Known GenesTMEM120B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv560463
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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