A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3561035



Internal ID22429828
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:52674219..52674219hg38UCSC Ensembl
chr15:52966416..52966416hg19UCSC Ensembl
Cytoband15q21.3
Allele length
AssemblyAllele length
hg38156
hg19156
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14384386, nssv14391077
SamplesHG00731, HG00733
Known GenesFAM214A
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)nsv3561035
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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