A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3558342



Internal ID22427145
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:144761753..144762059hg38UCSC Ensembl
chrX:143843274..143843580hg19UCSC Ensembl
CytobandXq27.3
Allele length
AssemblyAllele length
hg38307
hg19307
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14354036
SamplesNA19238
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
CommentsAbsence of a ALUYB8 mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3558342
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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