A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1442962



Internal ID16440252
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:644112..807931hg38UCSC Ensembl
Outerchr1:579492..743311hg19UCSC Ensembl
Outerchr1:569355..733174hg18UCSC Ensembl
Outerchr1:619355..783174hg17UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg38163820
hg19163820
hg18163820
hg17163820
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv831869
Supporting Variants
Samples
Known GenesLOC100133331, LOC100288069, OR4F16, OR4F29, OR4F3
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)nssv1442962
Frequency
Sample Size95
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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