A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv803595



Internal ID15750865
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:121747352..121752479hg38UCSC Ensembl
Innerchr12:122185258..122190385hg19UCSC Ensembl
Innerchr12:120669641..120674768hg18UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg385128
hg195128
hg185128
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv560472
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)nssv803595
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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