A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1442194



Internal ID16092798
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:121660348..121891697hg38UCSC Ensembl
Outerchr2:122417924..122649273hg19UCSC Ensembl
Outerchr2:122134394..122365743hg18UCSC Ensembl
Outerchr2:122134154..122365503hg17UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg38231350
hg19231350
hg18231350
hg17231350
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv834351
Supporting Variants
Samples
Known GenesNIFK, NIFK-AS1, TSN
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)nssv1442194
Frequency
Sample Size95
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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