A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3238467



Internal ID22374163
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:44083958..44121977hg38UCSC Ensembl
Outerchr21:45503839..45541858hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg382619
hg192619
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14268760, nssv14268759
SamplesNA19239, NA19240
Known GenesPWP2, TRAPPC10
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3238467
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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