A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14282128



Internal ID22257182
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:69961543..69961940hg38UCSC Ensembl
chr17:67957684..67958081hg19UCSC Ensembl
Cytoband17q24.3
Allele length
AssemblyAllele length
hg38398
hg19398
Variant TypeCNV duplication
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3529751
Supporting Variants
SamplesNA19238
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14282128
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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