A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3286477



Internal ID22384869
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:98825715..98825775hg38UCSC Ensembl
chr8:99837943..99838003hg19UCSC Ensembl
Cytoband8q22.2
Allele length
AssemblyAllele length
hg3861
hg1961
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14377523, nssv14438551
SamplesNA19240, HG00514
Known GenesSTK3
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)nsv3286477
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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