A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3227086



Internal ID22369687
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:154265265..154275947hg38UCSC Ensembl
Outerchr5:153644825..153655507hg19UCSC Ensembl
Cytoband5q33.2
Allele length
AssemblyAllele length
hg38912
hg19912
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14275265, nssv14275266
SamplesNA19239, HG00513
Known GenesGALNT10
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3227086
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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