A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv514456



Internal ID15466142
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:146436759..146442311hg38UCSC Ensembl
Innerchr7:146133851..146139403hg19UCSC Ensembl
Innerchr7:145764784..145770336hg18UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg385553
hg195553
hg185553
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2944215, nssv2944213, nssv2944210, nssv2944224, nssv2944218, nssv2944227, nssv2944214, nssv2944221, nssv2944226, nssv2944220, nssv2944219, nssv2944225, nssv2944217, nssv2944212, nssv2944230, nssv2944222, nssv2944211, nssv2944229, nssv2944228, nssv2944216, nssv2944223
SamplesNA19137, NA18933, NA19114, NA19093, NA19191, NA19223, NA18516, NA18517, NA18489, NA18507, NA18856, NA19182, NA18485, NA18916, NA21399, NA19190, NA19172, NA19119, NA21440, NA18857, NA18499
Known GenesCNTNAP2
MethodOligo aCGH
AnalysisADM2 threshold = 5
PlatformAgilent Eichler Human CNP 180K v3.0
Comments
ReferenceCampbell_et_al_2011
Pubmed ID21397061
Accession Number(s)nsv514456
Frequency
Sample Size2366
Observed Gain0
Observed Loss21
Observed Complex0
Frequencyn/a


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