A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3555064



Internal ID22423913
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:116687997..116687997hg38UCSC Ensembl
chr11:116558713..116558713hg19UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14380684, nssv14415990, nssv14360649, nssv14360647, nssv14360650, nssv14360648
SamplesNA19239, NA19240, HG00513, HG00514
Known Genes
MethodMerging
Sequencing
AnalysisMultiple analysis algorthms
PhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformIllumina HiSeq
See merged experiments
CommentsSee descriptions for individual calls in download files
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3555064
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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