A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14257467



Internal ID22266725
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:113248298..113274512hg38UCSC Ensembl
Outerchr13:113902612..113928827hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg381301
hg191301
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3240518
Supporting Variants
SamplesNA19238
Known GenesCUL4A, MIR8075
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14257467
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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