A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3207547



Internal ID22355919
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:102045644..102129175hg38UCSC Ensembl
chr3:101764488..101848019hg19UCSC Ensembl
Cytoband3q12.3
Allele length
AssemblyAllele length
hg3883532
hg1983532
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14309652, nssv14309651
SamplesNA19239, NA19240
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3207547
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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