A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3218011



Internal ID22363501
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:11142437..11147623hg38UCSC Ensembl
Outerchr5:11142549..11147735hg19UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg38855
hg19855
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14275709, nssv14275710
SamplesNA19238, NA19240
Known GenesCTNND2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3218011
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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