A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv803508



Internal ID15750778
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:121747352..121748165hg38UCSC Ensembl
Innerchr12:122185258..122186071hg19UCSC Ensembl
Innerchr12:120669641..120670454hg18UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38814
hg19814
hg18814
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv560469
Supporting Variants
Samples
Known GenesTMEM120B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv803508
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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