A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv517166



Internal ID15444459
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:194617172..194633785hg38UCSC Ensembl
Innerchr3:194337901..194354514hg19UCSC Ensembl
Innerchr3:195819190..195835803hg18UCSC Ensembl
Innerchr3:195819198..195835811hg17UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg3816614
hg1916614
hg1816614
hg1716614
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv310n21
Supporting Variantsnssv696641, nssv651678, nssv655011, nssv676754, nssv656060, nssv682136, nssv653905, nssv690217
Samples
Known GenesTMEM44
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv517166
Frequency
Sample Size2026
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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