A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv831035



Internal ID16108218
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:75322437..75436287hg38UCSC Ensembl
Outerchr7:74951608..75065565hg19UCSC Ensembl
Outerchr7:74789544..74903501hg18UCSC Ensembl
Outerchr7:74596259..74710216hg17UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg38113851
hg19113958
hg18113958
hg17113958
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1446241, nssv1446242, nssv1446236, nssv1446239, nssv1446237, nssv1446238, nssv1446243, nssv1446244
Samples
Known GenesLOC541473, NSUN5P1, PMS2P5, POM121C, SPDYE8P, STAG3L1, TRIM73, TRIM74
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)nsv831035
Frequency
Sample Size95
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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