A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3239928



Internal ID22374563
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:45589675..45590174hg38UCSC Ensembl
chrX:45448920..45449419hg19UCSC Ensembl
CytobandXp11.3
Allele length
AssemblyAllele length
hg38500
hg19500
Variant TypeCNV line1 deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14351069, nssv14351065, nssv14351066, nssv14351067, nssv14351068, nssv14351064, nssv14351063, nssv14351061, nssv14351062
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
CommentsAbsence of a L1HS mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3239928
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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