A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3563805



Internal ID22432541
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:82401420..82401420hg38UCSC Ensembl
chr4:83322573..83322573hg19UCSC Ensembl
Cytoband4q21.22
Allele length
AssemblyAllele length
hg38175
hg19175
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14315763, nssv14315762
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)nsv3563805
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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