A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv828203



Internal ID16122159
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:56852056..56946263hg38UCSC Ensembl
Innerchr14:57318774..57412981hg19UCSC Ensembl
Innerchr14:56388527..56482734hg18UCSC Ensembl
Cytoband14q22.3
Allele length
AssemblyAllele length
hg3894208
hg1994208
hg1894208
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv564877
Supporting Variants
Samples
Known GenesOTX2-AS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv828203
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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