A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3284046



Internal ID22382404
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:109228047..109228365hg38UCSC Ensembl
chr11:109098774..109099092hg19UCSC Ensembl
Cytoband11q22.3
Allele length
AssemblyAllele length
hg38319
hg19319
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1568n152
Supporting Variantsnssv14418494
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)nsv3284046
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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