A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3250039



Internal ID22377434
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:63584677..63610856hg38UCSC Ensembl
Outerchr20:62216030..62242209hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg38408
hg19408
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14266511
SamplesNA19239
Known GenesGMEB2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3250039
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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