A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv834692



Internal ID16111875
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:50161052..50356033hg38UCSC Ensembl
Outerchr3:50198485..50393464hg19UCSC Ensembl
Outerchr3:50173489..50368468hg18UCSC Ensembl
Outerchr3:50173489..50368468hg17UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg38194982
hg19194980
hg18194980
hg17194980
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1442810, nssv1442792, nssv1442808, nssv1442794, nssv1442806, nssv1442797, nssv1442804, nssv1442799, nssv1442802, nssv1442803, nssv1442791, nssv1442798, nssv1442800, nssv1442795, nssv1442809, nssv1442793, nssv1442801, nssv1442805
Samples
Known GenesCYB561D2, GNAI2, GNAT1, HYAL1, HYAL2, HYAL3, IFRD2, LSMEM2, MIR5787, MIR6872, NAT6, NPRL2, RASSF1, SEMA3B, SEMA3F, SLC38A3, TMEM115, TUSC2, ZMYND10
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)nsv834692
Frequency
Sample Size95
Observed Gain0
Observed Loss18
Observed Complex0
Frequencyn/a


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