A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14257363



Internal ID22118268
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:111422040..111438344hg38UCSC Ensembl
Outerchr13:112074387..112090691hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg381051
hg191051
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3232147
Supporting Variants
SamplesHG00512
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14257363
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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