A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3284370



Internal ID22382733
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:128584936..128585017hg38UCSC Ensembl
chr11:128454831..128454912hg19UCSC Ensembl
Cytoband11q24.3
Allele length
AssemblyAllele length
hg3882
hg1982
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1625n152
Supporting Variantsnssv14446774
SamplesHG00733
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)nsv3284370
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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