A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14258285



Internal ID22263848
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:112522527..112553025hg38UCSC Ensembl
Outerchr13:113176841..113207339hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg38830
hg19830
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3237433
Supporting Variants
SamplesNA19238
Known GenesTUBGCP3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14258285
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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