A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14257492



Internal ID22144946
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:114016460..114100071hg38UCSC Ensembl
Outerchr13:114781936..114865546hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg381305
hg191305
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3236240
Supporting Variants
SamplesHG00514
Known GenesRASA3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14257492
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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