A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3271734



Internal ID22377567
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:17764950..17773992hg38UCSC Ensembl
chrX:17783070..17792112hg19UCSC Ensembl
CytobandXp22.13
Allele length
AssemblyAllele length
hg389043
hg199043
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14381398
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)nsv3271734
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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