A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14349829



Internal ID22193716
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 Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3217896
Supporting Variants
SamplesHG00731
Known GenesCDK5RAP2
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14349829
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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