A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3522435



Internal ID22391857
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:102601115..102601430hg38UCSC Ensembl
chr11:102471846..102472161hg19UCSC Ensembl
Cytoband11q22.2
Allele length
AssemblyAllele length
hg38316
hg19316
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1542n152
Supporting Variantsnssv14359914, nssv14359910, nssv14359912, nssv14359907, nssv14359909, nssv14359908, nssv14359913, nssv14359911
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, HG00733, HG00513, HG00514
Known GenesMMP20
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
CommentsAbsence of a ALUYA5 mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3522435
Frequency
Sample Size9
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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