A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3285382



Internal ID22383761
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:113642117..113642178hg38UCSC Ensembl
chr12:114079922..114079983hg19UCSC Ensembl
Cytoband12q24.13
Allele length
AssemblyAllele length
hg3862
hg1962
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14396579
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)nsv3285382
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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