A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3562323



Internal ID22431077
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:182906935..182906935hg38UCSC Ensembl
chr2:183771663..183771663hg19UCSC Ensembl
Cytoband2q32.1
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 Variantsnssv14297116, nssv14297118, nssv14297117, nssv14297112, nssv14297115, nssv14297114, nssv14297113
SamplesHG00512, NA19238, HG00731, HG00732, NA19240, 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)nsv3562323
Frequency
Sample Size9
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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