A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3561579



Internal ID22430347
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:147186640..147186640hg38UCSC Ensembl
chr1:146658219..146658219hg19UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14286009
SamplesNA19239
Known GenesFMO5
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)nsv3561579
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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