A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3563047



Internal ID22431789
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:78207754..78207754hg38UCSC Ensembl
chr3:78256905..78256905hg19UCSC Ensembl
Cytoband3p12.3
Allele length
AssemblyAllele length
hg38248
hg19248
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14307003, nssv14307004
SamplesNA19239, NA19240
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)nsv3563047
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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