A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3540180



Internal ID22409326
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:80396880..80396880hg38UCSC Ensembl
chrX:79652379..79652379hg19UCSC Ensembl
CytobandXq21.1
Allele length
AssemblyAllele length
hg38831
hg19831
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14404021
SamplesNA19240
Known GenesFAM46D
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)nsv3540180
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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