A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3283843



Internal ID22382198
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:60516171..60516234hg38UCSC Ensembl
chr15:60808370..60808433hg19UCSC Ensembl
Cytoband15q22.2
Allele length
AssemblyAllele length
hg3864
hg1964
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2949n152
Supporting Variantsnssv14404644
SamplesNA19240
Known GenesRORA
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)nsv3283843
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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