A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3561927



Internal ID22430693
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:212592506..212592506hg38UCSC Ensembl
chr1:212765848..212765848hg19UCSC Ensembl
Cytoband1q32.3
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 Variantsnssv14306778, nssv14306777, nssv14306776
SamplesHG00512, HG00513, HG00514
Known GenesATF3
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)nsv3561927
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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