A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv518480



Internal ID15099087
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:80290266..80452563hg38UCSC Ensembl
Innerchr5:79586085..79748382hg19UCSC Ensembl
Innerchr5:79621841..79784138hg18UCSC Ensembl
Innerchr5:79621841..79784138hg17UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg38162298
hg19162298
hg18162298
hg17162298
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv695918
Samples
Known GenesCRSP8P, LOC644936, SPZ1, ZFYVE16
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv518480
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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