A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3563904



Internal ID22432640
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:32762472..32762472hg38UCSC Ensembl
chr5:32762578..32762578hg19UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14321258, nssv14321257, nssv14321259, nssv14321254, nssv14321255, nssv14321256
SamplesHG00512, HG00731, HG00732, HG00733, HG00513, HG00514
Known GenesNPR3
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)nsv3563904
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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