A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv830921



Internal ID16108104
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:21449482..21648398hg38UCSC Ensembl
Outerchr7:21489100..21688016hg19UCSC Ensembl
Outerchr7:21455625..21654541hg18UCSC Ensembl
Outerchr7:21262340..21461256hg17UCSC Ensembl
Cytoband7p15.3
Allele length
AssemblyAllele length
hg38198917
hg19198917
hg18198917
hg17198917
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1445937, nssv1445944, nssv1445958, nssv1445954, nssv1445952, nssv1445940, nssv1445956, nssv1445953, nssv1445948, nssv1445942, nssv1445943, nssv1445955, nssv1445945, nssv1445947, nssv1445938, nssv1445946, nssv1445951, nssv1445941, nssv1445949, nssv1445957
Samples
Known GenesDNAH11, SP4
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)nsv830921
Frequency
Sample Size95
Observed Gain20
Observed Loss0
Observed Complex0
Frequencyn/a


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