A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3217896



Internal ID22363418
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:120487314..120491540hg38UCSC Ensembl
chr9:123249592..123253818hg19UCSC Ensembl
Cytoband9q33.2
Allele length
AssemblyAllele length
hg384227
hg194227
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14349827, nssv14349831, nssv14349834, nssv14349833, nssv14349832, nssv14349829, nssv14349826, nssv14349828, nssv14349830
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesCDK5RAP2
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3217896
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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