A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3291695



Internal ID22387910
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:31591694..31592275hg38UCSC Ensembl
chr22:31987680..31988261hg19UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg38582
hg19582
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5710n152
Supporting Variantsnssv14432841, nssv14409788
SamplesNA19240, HG00514
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)nsv3291695
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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