A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3274489



Internal ID22377715
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:41211764..41211890hg38UCSC Ensembl
chrX:41071017..41071143hg19UCSC Ensembl
CytobandXp11.4
Allele length
AssemblyAllele length
hg38127
hg19127
Variant TypeCNV sva deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14413419
SamplesHG00514
Known GenesUSP9X
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsAbsence of a SVA mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3274489
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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