A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3560678



Internal ID22429474
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:76734019..76734019hg38UCSC Ensembl
chr14:77200362..77200362hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg38369
hg19369
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14372231
SamplesHG00514
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)nsv3560678
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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