A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14257551



Internal ID22330216
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:66130663..66162360hg38UCSC Ensembl
Outerchr13:66704795..66736492hg19UCSC Ensembl
Cytoband13q21.32
Allele length
AssemblyAllele length
hg381190
hg191190
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3237804
Supporting Variants
SamplesNA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14257551
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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