A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3565219



Internal ID22433940
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:145028002..145028002hg38UCSC Ensembl
chr8:146253388..146253388hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg381294
hg191294
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14344475, nssv14344476, nssv14344479, nssv14344477, nssv14344478
SamplesHG00731, HG00732, HG00733, HG00513, HG00514
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)nsv3565219
Frequency
Sample Size9
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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