A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3215051



Internal ID22361505
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:116289131..116289221hg38UCSC Ensembl
chr9:119051410..119051500hg19UCSC Ensembl
Cytoband9q33.1
Allele length
AssemblyAllele length
hg3891
hg1991
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9729n152
Supporting Variantsnssv14384999
SamplesNA19240
Known GenesPAPPA
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3215051
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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