A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14363980



Internal ID22270549
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:45079250..45089396hg38UCSC Ensembl
chr12:45473033..45483179hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg3810147
hg1910147
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3211487
Supporting Variants
SamplesNA19239
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14363980
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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