A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv559257



Internal ID15999980
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:70334144..70377881hg38UCSC Ensembl
Innerchr12:70727924..70771661hg19UCSC Ensembl
Innerchr12:69014191..69057928hg18UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg3843738
hg1943738
hg1843738
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv797850
Samples
Known GenesCNOT2, KCNMB4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv559257
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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