A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3286763



Internal ID22385157
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:128584939..128585028hg38UCSC Ensembl
chr11:128454834..128454923hg19UCSC Ensembl
Cytoband11q24.3
Allele length
AssemblyAllele length
hg3890
hg1990
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1625n152
Supporting Variantsnssv14418804
SamplesHG00514
Known GenesETS1
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)nsv3286763
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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