A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv829986



Internal ID16107169
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:81424009..81588706hg38UCSC Ensembl
Outerchr4:82345163..82509860hg19UCSC Ensembl
Outerchr4:82564187..82728884hg18UCSC Ensembl
Outerchr4:82702342..82867039hg17UCSC Ensembl
Cytoband4q21.21
Allele length
AssemblyAllele length
hg38164698
hg19164698
hg18164698
hg17164698
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1443742, nssv1443746, nssv1443750, nssv1443735, nssv1443737, nssv1443753, nssv1443738, nssv1443736, nssv1443751, nssv1443745, nssv1443747, nssv1443744, nssv1443731, nssv1443733, nssv1443743, nssv1443734, nssv1443748, nssv1443749, nssv1443732
Samples
Known GenesRASGEF1B
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)nsv829986
Frequency
Sample Size95
Observed Gain9
Observed Loss10
Observed Complex0
Frequencyn/a


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