A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3284468



Internal ID22382832
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:113900695..113900773hg38UCSC Ensembl
chr9:116662975..116663053hg19UCSC Ensembl
Cytoband9q32
Allele length
AssemblyAllele length
hg3879
hg1979
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14410781
SamplesHG00514
Known GenesZNF618
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)nsv3284468
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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