A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3284821



Internal ID22383190
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:100753037..100753089hg38UCSC Ensembl
chr8:101765265..101765317hg19UCSC Ensembl
Cytoband8q22.3
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9273n152
Supporting Variantsnssv14383519
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)nsv3284821
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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