A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv830915



Internal ID16108098
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:103482208..103750660hg38UCSC Ensembl
Outerchr1:104024830..104293282hg19UCSC Ensembl
Outerchr1:103797418..104094805hg18UCSC Ensembl
Outerchr1:103736851..104005303hg17UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg38268453
hg19268453
hg18297388
hg17268453
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1448373, nssv1448407, nssv1448351, nssv1448418, nssv1448340, nssv1448384, nssv1448451, nssv1448440, nssv1448462, nssv1448395, nssv1448429, nssv1448362
Samples
Known GenesACTG1P4, AMY1A, AMY1B, AMY1C, AMY2A, AMY2B, LOC101928436, RNPC3
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)nsv830915
Frequency
Sample Size95
Observed Gain7
Observed Loss5
Observed Complex0
Frequencyn/a


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