A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3233207



Internal ID22372693
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:63541577..63541874hg38UCSC Ensembl
chrX:62761457..62761754hg19UCSC Ensembl
CytobandXq11.1
Allele length
AssemblyAllele length
hg38298
hg19298
Variant TypeCNV line1 deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14351898, nssv14351896, nssv14351897
SamplesNA19238, NA19239, NA19240
Known GenesLOC92249
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)nsv3233207
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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