A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3278373



Internal ID22377897
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:25929822..25930155hg38UCSC Ensembl
chrX:25947939..25948272hg19UCSC Ensembl
CytobandXp21.3
Allele length
AssemblyAllele length
hg38334
hg19334
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv10059n152
Supporting Variantsnssv14413388
SamplesHG00514
Known Genes
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)nsv3278373
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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