A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3218450



Internal ID22363784
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:70073899..70076608hg38UCSC Ensembl
chr14:70540616..70543325hg19UCSC Ensembl
Cytoband14q24.2
Allele length
AssemblyAllele length
hg382710
hg192710
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14371113, nssv14371116, nssv14371118, nssv14371110, nssv14371111, nssv14371112, nssv14371115, nssv14371117, nssv14371114
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesSLC8A3
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3218450
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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