A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3527646



Internal ID22397033
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:53753804..53753916hg38UCSC Ensembl
chr12:54147588..54147700hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg38113
hg19113
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14363477, nssv14363475, nssv14363478, nssv14363476, nssv14363474, nssv14363479
SamplesHG00512, NA19238, NA19239, HG00731, NA19240, HG00513
Known GenesCISTR-ACT
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3527646
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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