A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3283775



Internal ID22382128
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:138952373..138952549hg38UCSC Ensembl
chr8:139964616..139964792hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg38177
hg19177
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14382110
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)nsv3283775
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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