A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3219271



Internal ID22364342
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:24573799..24583876hg38UCSC Ensembl
Outerchr5:24573908..24583985hg19UCSC Ensembl
Cytoband5p14.2
Allele length
AssemblyAllele length
hg381005
hg191005
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14275852, nssv14275853, nssv14275855, nssv14275854
SamplesHG00512, HG00731, HG00732, HG00733
Known GenesCDH10
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3219271
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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