A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3235570



Internal ID22373328
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:114116143..114162880hg38UCSC Ensembl
Outerchr13:114881618..114928355hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg381137
hg191137
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14257498, nssv14257499, nssv14257500, nssv14257501
SamplesNA19238, HG00732, NA19240, HG00733
Known GenesRASA3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3235570
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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