A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3539254



Internal ID22408421
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:83878138..83878138hg38UCSC Ensembl
chrX:83133146..83133146hg19UCSC Ensembl
CytobandXq21.1
Allele length
AssemblyAllele length
hg38149
hg19149
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14463776
SamplesHG00733
Known GenesCYLC1
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)nsv3539254
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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