A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3280381



Internal ID22378693
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:40139367..40139438hg38UCSC Ensembl
chrX:39998620..39998691hg19UCSC Ensembl
CytobandXp11.4
Allele length
AssemblyAllele length
hg3872
hg1972
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14439929
SamplesHG00733
Known GenesBCOR
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)nsv3280381
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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