A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3559156



Internal ID22427960
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:4576738..4576738hg38UCSC Ensembl
chr10:4618930..4618930hg19UCSC Ensembl
Cytoband10p15.1
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14329110, nssv14329111
SamplesHG00513, HG00514
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)nsv3559156
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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