A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3213929



Internal ID22360724
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:178583020..178594900hg38UCSC Ensembl
Outerchr5:178010021..178021901hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg383482
hg193482
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14274632, nssv14274631, nssv14275911, nssv14274629, nssv14275909, nssv14274630, nssv14275910, nssv14275908, nssv14275912
SamplesHG00512, NA19238, HG00731, HG00732, HG00733, HG00513, HG00514
Known GenesCOL23A1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3213929
Frequency
Sample Size9
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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