A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14257348



Internal ID22144932
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:43975885..43983701hg38UCSC Ensembl
Outerchr13:44550021..44557837hg19UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg38730
hg19730
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3240969
Supporting Variants
SamplesHG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14257348
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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