A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3219567



Internal ID22364555
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:113099633..113148560hg38UCSC Ensembl
Outerchr5:112435330..112484257hg19UCSC Ensembl
Cytoband5q22.2
Allele length
AssemblyAllele length
hg387499
hg197499
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14276805, nssv14276806
SamplesNA19238, NA19240
Known GenesMCC
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3219567
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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