A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3240882



Internal ID22374805
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:144221656..144238802hg38UCSC Ensembl
Outerchr8:145276559..145293705hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg381187
hg191187
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14279957, nssv14279956, nssv14279960, nssv14279958, nssv14279955, nssv14279961, nssv14279959, nssv14279962, nssv14279954
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesMROH1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3240882
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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