A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3564042



Internal ID22432777
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:90702017..90702017hg38UCSC Ensembl
chr5:89997834..89997834hg19UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg38113
hg19113
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14322032, nssv14322033
SamplesNA19238, HG00513
Known GenesGPR98
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)nsv3564042
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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