A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3201988



Internal ID22351214
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:138903060..138904313hg38UCSC Ensembl
chr5:138238749..138240002hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg381254
hg191254
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14325749, nssv14325750, nssv14325747, nssv14325751, nssv14325743, nssv14325745, nssv14325748, nssv14325744, nssv14325746
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesCTNNA1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3201988
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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