A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3542181



Internal ID22411262
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:147992424..147992424hg38UCSC Ensembl
chrX:147073944..147073944hg19UCSC Ensembl
CytobandXq27.3
Allele length
AssemblyAllele length
hg38501
hg19501
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14460601
SamplesHG00733
Known GenesFMR1NB
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)nsv3542181
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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