A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3237059



Internal ID22373780
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:65484056..65503821hg38UCSC Ensembl
Outerchr17:63480174..63499939hg19UCSC Ensembl
Cytoband17q24.1
Allele length
AssemblyAllele length
hg38898
hg19898
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14262190, nssv14262187, nssv14262195, nssv14262193, nssv14262189, nssv14262192, nssv14262191, nssv14262194, nssv14262188
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3237059
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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