A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3243135



Internal ID22375479
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:55492215..55502036hg38UCSC Ensembl
Outerchr17:53569576..53579397hg19UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg381025
hg191025
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14262153, nssv14262159, nssv14262157, nssv14262158, nssv14262155, nssv14262154, nssv14262156
SamplesHG00512, NA19238, NA19239, HG00732, NA19240, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3243135
Frequency
Sample Size9
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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