A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3557839



Internal ID22426643
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:33190462..33190779hg38UCSC Ensembl
chrX:33208579..33208896hg19UCSC Ensembl
CytobandXp21.1
Allele length
AssemblyAllele length
hg38318
hg19318
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv10081n152
Supporting Variantsnssv14351669, nssv14351671, nssv14351673, nssv14351672, nssv14351670, nssv14351665, nssv14351666, nssv14351668, nssv14351667
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesDMD
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
CommentsAbsence of a ALUYB8 mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3557839
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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