A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3557053



Internal ID22425866
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:43416097..43416097hg38UCSC Ensembl
chr13:43990233..43990233hg19UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg38111
hg19111
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14392549
SamplesNA19240
Known GenesENOX1
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)nsv3557053
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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