A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14257309



Internal ID22278649
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:113865221..113906639hg38UCSC Ensembl
Outerchr13:114568194..114609612hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg381242
hg191242
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3236861
Supporting Variants
SamplesNA19239
Known GenesGAS6-AS2, LINC00452
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14257309
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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