A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv832587



Internal ID16109770
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:41030795..41224672hg38UCSC Ensembl
Outerchr13:41604931..41798808hg19UCSC Ensembl
Outerchr13:40502931..40696808hg18UCSC Ensembl
Outerchr13:40502931..40696808hg17UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg38193878
hg19193878
hg18193878
hg17193878
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1450171, nssv1450186, nssv1450166, nssv1450158, nssv1450197, nssv1450177, nssv1450149, nssv1450168, nssv1450163, nssv1450167, nssv1450199, nssv1450154, nssv1450181, nssv1450182, nssv1450185, nssv1450178, nssv1450169, nssv1450162, nssv1450164, nssv1450170, nssv1450189, nssv1450147, nssv1450155, nssv1450179, nssv1450146, nssv1450193, nssv1450188, nssv1450180, nssv1450174, nssv1450194, nssv1450191, nssv1450152, nssv1450151, nssv1450175, nssv1450165, nssv1450157, nssv1450159, nssv1450192, nssv1450190, nssv1450198, nssv1450196, nssv1450160, nssv1450148, nssv1450156, nssv1450153, nssv1450176, nssv1450173, nssv1450187
Samples
Known GenesKBTBD6, KBTBD7, MTRF1, WBP4
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)nsv832587
Frequency
Sample Size95
Observed Gain48
Observed Loss0
Observed Complex0
Frequencyn/a


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