A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3215186



Internal ID22361601
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:54848497..54948885hg38UCSC Ensembl
chr11:51193098..51270783hg19UCSC Ensembl
Cytoband11p11.12
Allele length
AssemblyAllele length
hg38100389
hg1977686
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14379344
SamplesNA19240
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3215186
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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