A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv514696



Internal ID15466330
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:43026600..43028940hg38UCSC Ensembl
Innerchr13:43600736..43603076hg19UCSC Ensembl
Innerchr13:42498736..42501076hg18UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg382341
hg192341
hg182341
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2791947, nssv2795006, nssv2797048, nssv2792713, nssv2795140, nssv2792028, nssv2797939, nssv2791260, nssv2798048, nssv2792139, nssv2792168, nssv2797393, nssv2793279, nssv2794945, nssv2798156, nssv2792377, nssv2792757, nssv2798054, nssv2793192, nssv2796969, nssv2789160, nssv2793447, nssv2792071, nssv2795064, nssv2798364, nssv2792541, nssv2793114, nssv2793482, nssv2792061, nssv2798163, nssv2792669, nssv2797746, nssv2793589, nssv2797283, nssv2795991, nssv2795942, nssv2797490
SamplesNA18998, NA18947, NA18603, NA18959, NA18633, NA18969, NA18967, NA18940, NA18558, NA19197, NA19130, NA18949, NA19199, NA18970, NA18966, NA18973, NA18605, NA18948, NA18981, NA19208, NA18566, NA19000, NA18945, NA18974, NA19003, NA19206, NA18961, NA18952, NA18517, NA18564, NA18992, NA18594, NA18987, NA18552, NA18622, NA18620, NA18997
Known GenesDNAJC15
MethodOligo aCGH
AnalysisADM2 threshold = 5
PlatformAgilent Eichler Human CNP 180K v3.0
Comments
ReferenceCampbell_et_al_2011
Pubmed ID21397061
Accession Number(s)nsv514696
Frequency
Sample Size2366
Observed Gain37
Observed Loss0
Observed Complex0
Frequencyn/a


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