A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv564417



Internal ID16005140
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:38983113..39066356hg38UCSC Ensembl
Innerchr14:39452317..39535560hg19UCSC Ensembl
Innerchr14:38522068..38605311hg18UCSC Ensembl
Cytoband14q21.1
Allele length
AssemblyAllele length
hg3883244
hg1983244
hg1883244
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv826032
Samples
Known GenesSEC23A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv564417
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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