A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv519116



Internal ID15099723
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:118145324..118163486hg38UCSC Ensembl
Innerchr11:118016039..118034201hg19UCSC Ensembl
Innerchr11:117521249..117539411hg18UCSC Ensembl
Innerchr11:117521249..117539411hg17UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg3818163
hg1918163
hg1818163
hg1718163
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv696592
Samples
Known GenesSCN2B, SCN4B
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv519116
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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