A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3284539



Internal ID22382904
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:109357617..109357715hg38UCSC Ensembl
chr12:109795422..109795520hg19UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg3899
hg1999
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1991n152
Supporting Variantsnssv14397427
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)nsv3284539
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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