A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4002962



Internal ID18847100
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:120427921..120431122hg38UCSC Ensembl
Outerchr9:123190199..123193400hg19UCSC Ensembl
Cytoband9q33.2
Allele length
AssemblyAllele length
hg383202
hg193202
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1151540
Supporting Variants
SamplesKWB1
Known GenesCDK5RAP2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv4002962
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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