A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3563611



Internal ID22432347
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:87807402..87807402hg38UCSC Ensembl
chr4:88728554..88728554hg19UCSC Ensembl
Cytoband4q22.1
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 Variantsnssv14316574, nssv14316575
SamplesNA19238, NA19240
Known GenesIBSP
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)nsv3563611
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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