A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3560671



Internal ID22429467
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:68866111..68866111hg38UCSC Ensembl
chr14:69332828..69332828hg19UCSC Ensembl
Cytoband14q24.1
Allele length
AssemblyAllele length
hg38186
hg19186
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14371084, nssv14371090, nssv14371085, nssv14371089, nssv14371091, nssv14371088, nssv14371087, nssv14371086, nssv14371092
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
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)nsv3560671
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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