A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3529751



Internal ID22399142
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14282124, nssv14282126, nssv14282127, nssv14282128, nssv14282130, nssv14282125, nssv14282129
SamplesNA19238, NA19239, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3529751
Frequency
Sample Size9
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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