A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1446204



Internal ID16096808
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:73556313..73816595hg38UCSC Ensembl
Outerchr7:72970643..73230925hg19UCSC Ensembl
Outerchr7:72608579..72868861hg18UCSC Ensembl
Outerchr7:72415294..72675576hg17UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg38260283
hg19260283
hg18260283
hg17260283
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv831028
Supporting Variants
Samples
Known GenesABHD11, BCL7B, CLDN3, DNAJC30, LINC00035, MIR4284, MLXIPL, STX1A, TBL2, VPS37D, WBSCR22
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)nssv1446204
Frequency
Sample Size95
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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