A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14351897



Internal ID22279434
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3233207
Supporting Variants
SamplesNA19239
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)nssv14351897
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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