A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3243105



Internal ID22375470
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:57974126..57998385hg38UCSC Ensembl
Outerchr13:58548260..58572519hg19UCSC Ensembl
Cytoband13q21.1
Allele length
AssemblyAllele length
hg382657
hg192657
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14256719, nssv14256720
SamplesNA19238, NA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3243105
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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