A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3221598



Internal ID22365927
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:117512351..117515450hg38UCSC Ensembl
chr11:117383066..117386165hg19UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg383100
hg193100
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1585n152
Supporting Variantsnssv14375858
SamplesNA19240
Known GenesDSCAML1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3221598
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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