A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3273837



Internal ID22377674
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:115474394..115474734hg38UCSC Ensembl
chr20:5943011..5943320hg19UCSC Ensembl
Cytoband20p12.3
Allele length
AssemblyAllele length
hg38341
hg19310
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv10246n152
Supporting Variantsnssv14353989, nssv14353984, nssv14353988, nssv14353986, nssv14353981, nssv14353983, nssv14353985, nssv14353987, nssv14353982
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesMCM8
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)nsv3273837
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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