A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3288950



Internal ID22387368
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:76304531..76306925hg38UCSC Ensembl
chr9:78919447..78921841hg19UCSC Ensembl
Cytoband9q21.13
Allele length
AssemblyAllele length
hg382395
hg192395
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9605n152
Supporting Variantsnssv14437285
SamplesHG00514
Known GenesPCSK5
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)nsv3288950
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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