A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv558342



Internal ID16345751
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:34673639..34703445hg38UCSC Ensembl
Innerchr12:34826574..34856380hg19UCSC Ensembl
Innerchr12:34717841..34747647hg18UCSC Ensembl
Cytoband12p11.1
Allele length
AssemblyAllele length
hg3829807
hg1929807
hg1829807
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv793132, nssv793126, nssv793124, nssv793128, nssv793133, nssv793127, nssv793129, nssv793125, nssv793134, nssv793130, nssv793131
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv558342
Frequency
Sample Size17421
Observed Gain11
Observed Loss0
Observed Complex0
Frequencyn/a


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