A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3287531



Internal ID22385935
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:320872..321055hg38UCSC Ensembl
chr9:320872..321055hg19UCSC Ensembl
Cytoband9p24.3
Allele length
AssemblyAllele length
hg38184
hg19184
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14377846
SamplesNA19240
Known GenesDOCK8
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)nsv3287531
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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