A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1047680



Internal ID18790211
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:75711238..75792533hg38UCSC Ensembl
Innerchr14:76177581..76258876hg19UCSC Ensembl
Innerchr14:75247334..75328629hg18UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg3881296
hg1981296
hg1881296
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3531204
Samples
Known GenesTTLL5
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1047680
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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