A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3289424



Internal ID22387582
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:18052941..18053099hg38UCSC Ensembl
chr22:18535707..18535865hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38159
hg19159
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5670n152
Supporting Variantsnssv14434084
SamplesHG00514
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)nsv3289424
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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