A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3546539



Internal ID22415525
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:57159146..57159146hg38UCSC Ensembl
chr14:57625864..57625864hg19UCSC Ensembl
Cytoband14q22.3
Allele length
AssemblyAllele length
hg3858
hg1958
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14374799
SamplesNA19240
Known Genes
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)nsv3546539
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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