A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3562487



Internal ID22431240
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:150591003..150591003hg38UCSC Ensembl
chr2:151447517..151447517hg19UCSC Ensembl
Cytoband2q23.3
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14295675, nssv14295676, nssv14295678, nssv14295674, nssv14295677
SamplesNA19239, HG00731, HG00732, HG00733, HG00513
Known Genes
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)nsv3562487
Frequency
Sample Size9
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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