A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1449928



Internal ID16100532
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:148226082..148390242hg38UCSC Ensembl
Outerchr1:147698353..147862394hg19UCSC Ensembl
Outerchr1:146164977..146329018hg18UCSC Ensembl
Outerchr1:144813265..144977306hg17UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38164161
hg19164042
hg18164042
hg17164042
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv831448
Supporting Variants
Samples
Known GenesMIR5087, MIR6077-1, MIR6077-2, NBPF10, NBPF8
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)nssv1449928
Frequency
Sample Size95
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer