A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3221654



Internal ID22365965
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:11281368..11313893hg38UCSC Ensembl
Outerchr5:11281480..11314005hg19UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg38487
hg19487
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14275965
SamplesHG00731
Known GenesCTNND2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3221654
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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