A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3283869



Internal ID22382225
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:113453346..113453538hg38UCSC Ensembl
chr9:116215626..116215818hg19UCSC Ensembl
Cytoband9q32
Allele length
AssemblyAllele length
hg38193
hg19193
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9725n152
Supporting Variantsnssv14410780
SamplesHG00514
Known GenesRGS3
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)nsv3283869
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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