A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14257501



Internal ID22285203
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:114116143..114162880hg38UCSC Ensembl
Outerchr13:114881618..114928355hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg381137
hg191137
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3235570
Supporting Variants
SamplesNA19240
Known GenesRASA3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14257501
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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