A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3543833



Internal ID22412882
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:144233308..144233308hg38UCSC Ensembl
chr8:145288211..145288211hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg38208
hg19208
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14455663, nssv14428715
SamplesHG00733, HG00514
Known GenesMROH1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3543833
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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