A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3561976



Internal ID22430742
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:59406204..59406204hg38UCSC Ensembl
chr1:59871876..59871876hg19UCSC Ensembl
Cytoband1p32.1
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 Variantsnssv14368182, nssv14368181, nssv14368180, nssv14368183
SamplesHG00512, NA19239, HG00732, NA19240
Known GenesFGGY
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)nsv3561976
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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