A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3546352



Internal ID22415341
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:108215434..108215434hg38UCSC Ensembl
chr13:108867782..108867782hg19UCSC Ensembl
Cytoband13q33.3
Allele length
AssemblyAllele length
hg3879
hg1979
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14417873
SamplesHG00514
Known GenesLIG4
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)nsv3546352
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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