A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv832033



Internal ID16109216
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:132743736..132870955hg38UCSC Ensembl
Outerchr10:134557240..134684459hg19UCSC Ensembl
Outerchr10:134407230..134534449hg18UCSC Ensembl
Outerchr10:134407230..134534449hg17UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg38127220
hg19127220
hg18127220
hg17127220
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1448870, nssv1448876, nssv1448877, nssv1448868, nssv1448872, nssv1448875, nssv1448871, nssv1448874, nssv1448869
Samples
Known GenesINPP5A, NKX6-2, TTC40
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)nsv832033
Frequency
Sample Size95
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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