A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3238662



Internal ID22374222
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:43444576..43481291hg38UCSC Ensembl
Outerchr21:44864456..44901171hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38497
hg19497
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14267702
SamplesHG00513
Known GenesLINC00313, LINC00319
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3238662
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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