A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3286354



Internal ID22384744
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:116289114..116289201hg38UCSC Ensembl
chr9:119051393..119051480hg19UCSC Ensembl
Cytoband9q33.1
Allele length
AssemblyAllele length
hg3888
hg1988
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9729n152
Supporting Variantsnssv14439877, nssv14410789
SamplesHG00733, HG00514
Known GenesPAPPA
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)nsv3286354
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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