A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv558999



Internal ID15999722
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:54084834..54118992hg38UCSC Ensembl
Innerchr12:54478618..54512776hg19UCSC Ensembl
Innerchr12:52764885..52799043hg18UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg3834159
hg1934159
hg1834159
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv796284
Samples
Known GenesFLJ12825, LOC100240734
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv558999
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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