A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3276979



Internal ID22377832
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:96503683..96503881hg38UCSC Ensembl
chrX:95758682..95758880hg19UCSC Ensembl
CytobandXq21.33
Allele length
AssemblyAllele length
hg38199
hg19199
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14376431
SamplesNA19240
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsAbsence of a AluS mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3276979
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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