A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14373079



Internal ID22270226
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3218258
Supporting Variants
SamplesNA19239
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14373079
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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