A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3558639



Internal ID22427441
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:130405824..130406152hg38UCSC Ensembl
chrX:129539798..129540126hg19UCSC Ensembl
CytobandXq26.1
Allele length
AssemblyAllele length
hg38329
hg19329
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv10286n152
Supporting Variantsnssv14353596, nssv14353595, nssv14353592, nssv14353591, nssv14353593, nssv14353594, nssv14353590
SamplesHG00512, NA19238, NA19239, HG00732, NA19240, HG00513, HG00514
Known GenesRBMX2
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
CommentsAbsence of a ALUYA5 mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3558639
Frequency
Sample Size9
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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