A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3561664



Internal ID22430432
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:44391696..44391696hg38UCSC Ensembl
chr1:44857368..44857368hg19UCSC Ensembl
Cytoband1p34.1
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 Variantsnssv14365065, nssv14365064
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)nsv3561664
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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