A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3220084



Internal ID22364894
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:6768179..6775882hg38UCSC Ensembl
Outerchr5:6768292..6775995hg19UCSC Ensembl
Cytoband5p15.31
Allele length
AssemblyAllele length
hg381258
hg191258
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14275663, nssv14275661, nssv14275659, nssv14275657, nssv14275658, nssv14275660, nssv14275662
SamplesNA19238, NA19239, 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)nsv3220084
Frequency
Sample Size9
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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