A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3293543



Internal ID22388154
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:31591642..31593028hg38UCSC Ensembl
chr22:31987628..31989014hg19UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg381387
hg191387
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14409787
SamplesNA19240
Known GenesSFI1
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)nsv3293543
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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