A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3545229



Internal ID22414246
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:125178611..125178611hg38UCSC Ensembl
chr11:125048507..125048507hg19UCSC Ensembl
Cytoband11q24.2
Allele length
AssemblyAllele length
hg3855
hg1955
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14390361
SamplesNA19240
Known GenesPKNOX2
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences at least 70% masked by tandem repeat finder or contained within a tandem repeat
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3545229
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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