A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv560470



Internal ID16001193
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:121747352..121748362hg38UCSC Ensembl
Innerchr12:122185258..122186268hg19UCSC Ensembl
Innerchr12:120669641..120670651hg18UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg381011
hg191011
hg181011
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2922n54
Supporting Variantsnssv803588, nssv803587
Samples
Known GenesTMEM120B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv560470
Frequency
Sample Size17421
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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