A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3283624



Internal ID22381974
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:88295021..88295169hg38UCSC Ensembl
chr16:88328627..88328775hg19UCSC Ensembl
Cytoband16q24.2
Allele length
AssemblyAllele length
hg38149
hg19149
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3333n152
Supporting Variantsnssv14404887
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)nsv3283624
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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