A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3290346



Internal ID22387721
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:62581476..62581828hg38UCSC Ensembl
chr18:60248709..60249061hg19UCSC Ensembl
Cytoband18q21.33
Allele length
AssemblyAllele length
hg38353
hg19353
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14432101, nssv14406789
SamplesNA19240, 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)nsv3290346
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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