A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3273121



Internal ID22377634
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:86623757..86624076hg38UCSC Ensembl
chrX:85878760..85879079hg19UCSC Ensembl
CytobandXq21.2
Allele length
AssemblyAllele length
hg38320
hg19320
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv10183n152
Supporting Variantsnssv14413045
SamplesHG00514
Known GenesDACH2
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsAbsence of a AluY mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3273121
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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