A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3554078



Internal ID22422946
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:36507549..36507549hg38UCSC Ensembl
chr11:36529099..36529099hg19UCSC Ensembl
Cytoband11p12
Allele length
AssemblyAllele length
hg38208
hg19208
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14416323
SamplesHG00514
Known GenesTRAF6
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)nsv3554078
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