A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv832026



Internal ID16109209
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:183815931..183992713hg38UCSC Ensembl
Outerchr1:183785065..183961847hg19UCSC Ensembl
Outerchr1:182051688..182228470hg18UCSC Ensembl
Outerchr1:180516722..180693504hg17UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg38176783
hg19176783
hg18176783
hg17176783
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1441547, nssv1441534, nssv1441567, nssv1441548, nssv1441579, nssv1441540, nssv1441554, nssv1441544, nssv1441577, nssv1441565, nssv1441562, nssv1441537, nssv1441545, nssv1441536, nssv1441572, nssv1441580, nssv1441555, nssv1441561, nssv1441571, nssv1441573, nssv1441550, nssv1441549, nssv1441564, nssv1441560, nssv1441578, nssv1441543, nssv1441568, nssv1441559, nssv1441576, nssv1441539, nssv1441558, nssv1441551, nssv1441557, nssv1441538, nssv1441581, nssv1441535, nssv1441553, nssv1441569, nssv1441546, nssv1441556, nssv1441575, nssv1441542, nssv1441566, nssv1441570
Samples
Known GenesCOLGALT2, RGL1
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)nsv832026
Frequency
Sample Size95
Observed Gain4
Observed Loss40
Observed Complex0
Frequencyn/a


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