A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3275311



Internal ID22377749
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:25929828..25930157hg38UCSC Ensembl
chrX:25947945..25948274hg19UCSC Ensembl
CytobandXp21.3
Allele length
AssemblyAllele length
hg38330
hg19330
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv10059n152
Supporting Variantsnssv14350712, nssv14350711
SamplesHG00512, HG00514
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)nsv3275311
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer