A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3560732



Internal ID22429529
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:93023938..93023938hg38UCSC Ensembl
chr15:93567168..93567168hg19UCSC Ensembl
Cytoband15q26.1
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 Variantsnssv14380269, nssv14377581, nssv14384183
SamplesHG00731, HG00732, HG00733
Known GenesCHD2
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)nsv3560732
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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