A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3216000



Internal ID22362142
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:124438954..124439072hg38UCSC Ensembl
chr12:124923500..124923618hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38119
hg19119
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14366037, nssv14366038, nssv14366040, nssv14366039
SamplesNA19239, NA19240, HG00513, HG00514
Known GenesNCOR2
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3216000
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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