A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3242517



Internal ID22375304
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:63452376..63481955hg38UCSC Ensembl
Outerchr18:61119609..61149188hg19UCSC Ensembl
Cytoband18q21.33
Allele length
AssemblyAllele length
hg381303
hg191303
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14262926, nssv14262923, nssv14262922, nssv14262925, nssv14262924, nssv14262927
SamplesNA19238, NA19239, HG00732, NA19240, HG00733, HG00513
Known GenesSERPINB5
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3242517
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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