A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv560462



Internal ID16001185
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:121739416..121748165hg38UCSC Ensembl
Innerchr12:122177322..122186071hg19UCSC Ensembl
Innerchr12:120661705..120670454hg18UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg388750
hg198750
hg188750
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv803436, nssv803437, nssv803438
Samples
Known GenesTMEM120B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv560462
Frequency
Sample Size17421
Observed Gain1
Observed Loss2
Observed Complex0
Frequencyn/a


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