A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3292483



Internal ID22388007
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:48320260..48320310hg38UCSC Ensembl
chr22:48716072..48716122hg19UCSC Ensembl
Cytoband22q13.32
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14410115, nssv14434503, nssv14459757
SamplesNA19240, HG00733, HG00514
Known Genes
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)nsv3292483
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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