A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv514669



Internal ID15813028
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:39909775..39919983hg38UCSC Ensembl
Innerchr12:40303577..40313785hg19UCSC Ensembl
Innerchr12:38589844..38600052hg18UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg3810209
hg1910209
hg1810209
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2795288, nssv2794307, nssv2788886, nssv2792836, nssv2795093, nssv2797366
SamplesNA19198, NA18867, NA19179, NA19114, NA19206, NA18869
Known GenesSLC2A13
MethodOligo aCGH
AnalysisADM2 threshold = 5
PlatformAgilent Eichler Human CNP 180K v3.0
Comments
ReferenceCampbell_et_al_2011
Pubmed ID21397061
Accession Number(s)nsv514669
Frequency
Sample Size2366
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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