A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3211487



Internal ID22359033
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:45079250..45089396hg38UCSC Ensembl
chr12:45473033..45483179hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg3810147
hg1910147
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14363978, nssv14363980, nssv14363981, nssv14363974, nssv14363976, nssv14363977, nssv14363979, nssv14363975, nssv14363973
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3211487
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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