A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3541306



Internal ID22410416
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:114261591..114261591hg38UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg3861
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14429201
SamplesHG00514
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)nsv3541306
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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