A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2812502



Internal ID15449062
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:78172160..78173904hg38UCSC Ensembl
Innerchr14:78638503..78640247hg19UCSC Ensembl
Innerchr14:77708256..77710000hg18UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg381745
hg191745
hg181745
Variant TypeCNV gain
Copy Number10
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv514752
Supporting Variants
SamplesNA21477
Known GenesNRXN3
MethodOligo aCGH
AnalysisADM2 threshold = 5
PlatformAgilent Eichler Human CNP 180K v3.0
Comments
ReferenceCampbell_et_al_2011
Pubmed ID21397061
Accession Number(s)nssv2812502
Frequency
Sample Size2366
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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