A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3245386



Internal ID22376130
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:89449259..89480347hg38UCSC Ensembl
Outerchr13:90101513..90132601hg19UCSC Ensembl
Cytoband13q31.3
Allele length
AssemblyAllele length
hg38940
hg19940
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14257691, nssv14257689, nssv14257690
SamplesNA19238, HG00732, HG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3245386
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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