A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14257397



Internal ID22132128
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:108450674..108482153hg38UCSC Ensembl
Outerchr13:109103022..109134501hg19UCSC Ensembl
Cytoband13q33.3
Allele length
AssemblyAllele length
hg38942
hg19942
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3245502
Supporting Variants
SamplesHG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14257397
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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