A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv564200



Internal ID16004923
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:34842066..35043129hg38UCSC Ensembl
Innerchr14:35311272..35512335hg19UCSC Ensembl
Innerchr14:34381023..34582086hg18UCSC Ensembl
Cytoband14q13.2
Allele length
AssemblyAllele length
hg38201064
hg19201064
hg18201064
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv825163
Samples
Known GenesBAZ1A, IGBP1P1, SRP54
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv564200
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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