A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14389960



Internal ID22295175
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:36507513..36507513hg38UCSC Ensembl
chr11:36529063..36529063hg19UCSC Ensembl
Cytoband11p12
Allele length
AssemblyAllele length
hg38308
hg19308
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3557245
Supporting Variants
SamplesNA19240
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)nssv14389960
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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