A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3286068



Internal ID22384455
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:115654880..115654953hg38UCSC Ensembl
chr5:114990577..114990650hg19UCSC Ensembl
Cytoband5q22.3
Allele length
AssemblyAllele length
hg3874
hg1974
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7491n152
Supporting Variantsnssv14410609, nssv14454727, nssv14436480
SamplesNA19240, HG00733, HG00514
Known GenesLOC102467217
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)nsv3286068
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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