A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3273346



Internal ID22377646
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:44678453..44678588hg38UCSC Ensembl
chrX:44537699..44537834hg19UCSC Ensembl
CytobandXp11.3
Allele length
AssemblyAllele length
hg38136
hg19136
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14379402
SamplesNA19240
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsAbsence of a Alu.Moasic mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3273346
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