A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3286189



Internal ID22384577
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:111242689..111242756hg38UCSC Ensembl
chr10:113002447..113002514hg19UCSC Ensembl
Cytoband10q25.2
Allele length
AssemblyAllele length
hg3868
hg1968
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14376165
SamplesNA19240
Known Genes
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)nsv3286189
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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