A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv519380



Internal ID15099987
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:180515395..180524574hg38UCSC Ensembl
Innerchr5:179942395..179951574hg19UCSC Ensembl
Innerchr5:179875001..179884180hg18UCSC Ensembl
Innerchr5:179875001..179884180hg17UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg389180
hg199180
hg189180
hg179180
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv700855, nssv684924, nssv655762
Samples
Known GenesCNOT6
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv519380
Frequency
Sample Size2026
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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