A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3557607



Internal ID22426413
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:86623753..86624077hg38UCSC Ensembl
chrX:85878756..85879080hg19UCSC Ensembl
CytobandXq21.2
Allele length
AssemblyAllele length
hg38325
hg19325
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv10183n152
Supporting Variantsnssv14352522, nssv14352523
SamplesHG00512, HG00514
Known GenesDACH2
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
CommentsAbsence of a ALUYG6 mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3557607
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