A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3299003



Internal ID22388897
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:50337604..50337667hg38UCSC Ensembl
chr22:50776033..50776096hg19UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg3864
hg1964
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5818n152
Supporting Variantsnssv14410195
SamplesNA19240
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)nsv3299003
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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