A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv834469



Internal ID16111652
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:25255915..25436044hg38UCSC Ensembl
Outerchr1:25582406..25762535hg19UCSC Ensembl
Outerchr1:25454993..25635122hg18UCSC Ensembl
Outerchr1:25327725..25507851hg17UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg38180130
hg19180130
hg18180130
hg17180127
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1444107, nssv1444173, nssv1444140, nssv1444129, nssv1444218, nssv1444207, nssv1444185, nssv1444151, nssv1444240, nssv1444196, nssv1444162, nssv1444229, nssv1444118
Samples
Known GenesRHCE, RHD, TMEM50A, TMEM57
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)nsv834469
Frequency
Sample Size95
Observed Gain2
Observed Loss11
Observed Complex0
Frequencyn/a


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