A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3244423



Internal ID22375855
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:150021901..150022066hg38UCSC Ensembl
chrX:149190132..149190297hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg38166
hg19166
Variant TypeCNV line1 deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14354185
SamplesNA19238
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)nsv3244423
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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