A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3558971



Internal ID22427775
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:107501344..107501529hg38UCSC Ensembl
chrX:106744574..106744759hg19UCSC Ensembl
CytobandXq22.3
Allele length
AssemblyAllele length
hg38186
hg19186
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv10231n152
Supporting Variantsnssv14353847, nssv14353848
SamplesNA19239, NA19240
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)nsv3558971
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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