A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv831030



Internal ID16108213
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:74111777..74250191hg38UCSC Ensembl
Outerchr7:73526107..73664521hg19UCSC Ensembl
Outerchr7:73164043..73302457hg18UCSC Ensembl
Outerchr7:72970758..73109172hg17UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg38138415
hg19138415
hg18138415
hg17138415
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1446212, nssv1446211
Samples
Known GenesEIF4H, LAT2, LIMK1, MIR590, RFC2
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)nsv831030
Frequency
Sample Size95
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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