A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv564346



Internal ID16005069
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:36518805..36520644hg38UCSC Ensembl
Innerchr14:36988010..36989849hg19UCSC Ensembl
Innerchr14:36057761..36059600hg18UCSC Ensembl
Cytoband14q13.3
Allele length
AssemblyAllele length
hg381840
hg191840
hg181840
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv825768
Samples
Known GenesNKX2-1, NKX2-1-AS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv564346
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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