A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3230413



Internal ID22371924
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:131663952..131669984hg38UCSC Ensembl
chrX:130797965..130803997hg19UCSC Ensembl
CytobandXq26.2
Allele length
AssemblyAllele length
hg386033
hg196033
Variant TypeCNV line1 deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14354238
SamplesNA19240
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
CommentsAbsence of a L1PA2 mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3230413
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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