A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv831723



Internal ID16108906
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:126593418..126769986hg38UCSC Ensembl
Outerchr9:129355697..129532265hg19UCSC Ensembl
Outerchr9:128395518..128572086hg18UCSC Ensembl
Outerchr9:126435251..126611819hg17UCSC Ensembl
Cytoband9q33.3
Allele length
AssemblyAllele length
hg38176569
hg19176569
hg18176569
hg17176569
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1448002, nssv1448001, nssv1448007, nssv1448003, nssv1448009, nssv1448008, nssv1448005, nssv1448010, nssv1448004
Samples
Known GenesLMX1B
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)nsv831723
Frequency
Sample Size95
Observed Gain2
Observed Loss7
Observed Complex0
Frequencyn/a


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