A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv560489



Internal ID16001212
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:121747710..121752479hg38UCSC Ensembl
Innerchr12:122185616..122190385hg19UCSC Ensembl
Innerchr12:120669999..120674768hg18UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg384770
hg194770
hg184770
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv803647
Samples
Known GenesTMEM120B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv560489
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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