A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv831636



Internal ID9422487
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:155249432..155475073hg38UCSC Ensembl
Outerchr1:155219223..155444864hg19UCSC Ensembl
Outerchr1:153485847..153711488hg18UCSC Ensembl
Outerchr1:152032296..152257937hg17UCSC Ensembl
Cytoband1q22
Allele length
AssemblyAllele length
hg38225642
hg19225642
hg18225642
hg17225642
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1450773, nssv1450762
Samples
Known GenesASH1L, CLK2, FAM189B, FDPS, HCN3, MIR555, PKLR, POU5F1P4, RUSC1, RUSC1-AS1, SCAMP3
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)nsv831636
Frequency
Sample Size95
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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