A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3553232



Internal ID22422118
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:55143928..55143928hg38UCSC Ensembl
chr14:55610646..55610646hg19UCSC Ensembl
Cytoband14q22.3
Allele length
AssemblyAllele length
hg3864
hg1964
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14376841
SamplesNA19240
Known GenesLGALS3
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)nsv3553232
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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