A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv834556



Internal ID16111739
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:225516297..225730941hg38UCSC Ensembl
Outerchr2:226381013..226595657hg19UCSC Ensembl
Outerchr2:226089257..226303901hg18UCSC Ensembl
Outerchr2:226206518..226421162hg17UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg38214645
hg19214645
hg18214645
hg17214645
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1442585
Samples
Known GenesNYAP2
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)nsv834556
Frequency
Sample Size95
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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