A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3208281



Internal ID22356549
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:162713285..162850337hg38UCSC Ensembl
chr5:162140291..162277343hg19UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg38137053
hg19137053
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14325219
SamplesNA19239
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3208281
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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