A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3218007



Internal ID22363497
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:128868550..128868692hg38UCSC Ensembl
chr11:128738445..128738587hg19UCSC Ensembl
Cytoband11q24.3
Allele length
AssemblyAllele length
hg38143
hg19143
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1626n152
Supporting Variantsnssv14418826
SamplesHG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3218007
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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