A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3545508



Internal ID22414517
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:65676306..65676306hg38UCSC Ensembl
chr11:65443777..65443777hg19UCSC Ensembl
Cytoband11q13.1
Allele length
AssemblyAllele length
hg38144
hg19144
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14377588
SamplesNA19240
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences detected as low complexity by RepeatMasker/3.3.0
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3545508
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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