A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3283852



Internal ID22382207
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:113262771..113263115hg38UCSC Ensembl
chr13:113917085..113917429hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg38345
hg19345
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2489n152
Supporting Variantsnssv14403984
SamplesNA19240
Known GenesCUL4A, MIR8075
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)nsv3283852
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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