A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3564933



Internal ID22433657
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:125011869..125011869hg38UCSC Ensembl
chr8:126024111..126024111hg19UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14344937, nssv14344938, nssv14344941, nssv14344942, nssv14344936, nssv14344940, nssv14344939, nssv14344943
SamplesHG00512, NA19238, NA19239, HG00731, NA19240, HG00733, HG00513, HG00514
Known GenesSQLE
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
CommentsInsertion of a Alu mobile element relative to the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3564933
Frequency
Sample Size9
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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