A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3561416



Internal ID22430184
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:160291679..160291679hg38UCSC Ensembl
chr1:160261469..160261469hg19UCSC Ensembl
Cytoband1q23.2
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 Variantsnssv14292400, nssv14292399
SamplesNA19239, NA19240
Known GenesCOPA
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)nsv3561416
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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