A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv521286



Internal ID15448579
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:64811172..64815226hg38UCSC Ensembl
Innerchr14:65277890..65281944hg19UCSC Ensembl
Innerchr14:64347643..64351697hg18UCSC Ensembl
Innerchr14:64347643..64351697hg17UCSC Ensembl
Cytoband14q23.3
Allele length
AssemblyAllele length
hg384055
hg194055
hg184055
hg174055
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv697888
Samples
Known GenesSPTB
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv521286
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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