A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1445358



Internal ID16095962
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:31919777..31979823hg38UCSC Ensembl
Outerchr6:31887554..31947600hg19UCSC Ensembl
Outerchr6:31995533..32055579hg18UCSC Ensembl
Outerchr6:31995533..32055579hg17UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg3860047
hg1960047
hg1860047
hg1760047
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv830628
Supporting Variants
Samples
Known GenesC2, CFB, DXO, LOC102060414, MIR1236, NELFE, SKIV2L, STK19
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)nssv1445358
Frequency
Sample Size95
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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