A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv831031



Internal ID16108214
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:74282956..74405915hg38UCSC Ensembl
Outerchr7:73697286..73820245hg19UCSC Ensembl
Outerchr7:73335222..73458181hg18UCSC Ensembl
Outerchr7:73141937..73264896hg17UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg38122960
hg19122960
hg18122960
hg17122960
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1446224, nssv1446228, nssv1446219, nssv1446227, nssv1446213, nssv1446222, nssv1446215, nssv1446221, nssv1446220, nssv1446216, nssv1446226, nssv1446225, nssv1446214, nssv1446217, nssv1446223, nssv1446230
Samples
Known GenesCLIP2
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)nsv831031
Frequency
Sample Size95
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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