A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3561750



Internal ID22430518
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:3440155..3440155hg38UCSC Ensembl
chr20:3420802..3420802hg19UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg38530
hg19530
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14297790
SamplesHG00513
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
CommentsInsertion of a SVA mobile element relative to the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3561750
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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