A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv833741



Internal ID16457610
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:8786994..8861171hg38UCSC Ensembl
Outerchr19:8897670..8971847hg19UCSC Ensembl
Outerchr19:8758670..8832847hg18UCSC Ensembl
Outerchr19:8758670..8832847hg17UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg3874178
hg1974178
hg1874178
hg1774178
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv48n68
Supporting Variantsnssv1454509, nssv1454521, nssv1454493, nssv1454503, nssv1454496, nssv1454513, nssv1454523, nssv1454522, nssv1454518, nssv1454506, nssv1454511, nssv1454502, nssv1454519, nssv1454505, nssv1454510, nssv1454497, nssv1454512, nssv1454507, nssv1454494, nssv1454500, nssv1454501, nssv1454514, nssv1454499, nssv1454504, nssv1454492, nssv1454517, nssv1454515, nssv1454508, nssv1454495, nssv1454516, nssv1454498, nssv1454520
Samples
Known GenesMBD3L1, MUC16, ZNF558
MethodBAC aCGH
AnalysisExperimental SDs (SDautosome) were calculated for each experiment on the basis of the log2 ratios of the 24,392 reliable clones minus the clones removed because of low signal-to-noise ratio (SNR) or high SD of replicate clone measures (SDclone). Thresholds for determining CNV clones were set at a multiple of the SDautosome value. For each experiment, clones were annotated as uninformative if they were filtered via SNR or SDclone, as a CNV loss if the log2 ratio was less than the negative threshold, as unchanged if the log2 ratio was between the negative and positive thresholds, and as a CNV gain if the log2 ratio was above the positive threshold.
PlatformGPL2616
Comments
ReferenceWong_et_al_2007
Pubmed ID17160897
Accession Number(s)nsv833741
Frequency
Sample Size95
Observed Gain32
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer