A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv564264



Internal ID16004987
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:35013591..35263163hg38UCSC Ensembl
Innerchr14:35482797..35732369hg19UCSC Ensembl
Innerchr14:34552548..34802120hg18UCSC Ensembl
Cytoband14q13.2
Allele length
AssemblyAllele length
hg38249573
hg19249573
hg18249573
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv825346
Samples
Known GenesFAM177A1, KIAA0391, PPP2R3C, SRP54
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv564264
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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