A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3551473



Internal ID22420384
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:112539823..112539823hg38UCSC Ensembl
chr13:113194137..113194137hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg38186
hg19186
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14444447
SamplesHG00733
Known GenesTUBGCP3
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences at least 70% masked by tandem repeat finder or contained within a tandem repeat
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3551473
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer