A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3558304



Internal ID22427107
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:43809952..43810268hg38UCSC Ensembl
chrX:43669199..43669515hg19UCSC Ensembl
CytobandXp11.3
Allele length
AssemblyAllele length
hg38317
hg19317
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv10099n152
Supporting Variantsnssv14350398, nssv14350399
SamplesNA19239, NA19240
Known GenesMAOB
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
CommentsAbsence of a ALUY mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3558304
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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