A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3226182



Internal ID22369074
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:177957549..177985259hg38UCSC Ensembl
Outerchr5:177384550..177412260hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg383683
hg193683
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7655n152
Supporting Variantsnssv14274615, nssv14274617, nssv14274614, nssv14274612, nssv14274613, nssv14274616
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, HG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3226182
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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