A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3218258



Internal ID22363656
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:58013122..58013236hg38UCSC Ensembl
chr17:56090483..56090597hg19UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg38115
hg19115
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14373079
SamplesNA19239
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3218258
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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