A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv831124



Internal ID16108307
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:128330292..128507856hg38UCSC Ensembl
Outerchr7:127970345..128147910hg19UCSC Ensembl
Outerchr7:127757581..127935146hg18UCSC Ensembl
Outerchr7:127564296..127741861hg17UCSC Ensembl
Cytoband7q32.1
Allele length
AssemblyAllele length
hg38177565
hg19177566
hg18177566
hg17177566
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1446464, nssv1446463, nssv1446465, nssv1446461, nssv1446466
Samples
Known GenesHILPDA, IMPDH1, METTL2B, PRRT4, RBM28
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)nsv831124
Frequency
Sample Size95
Observed Gain1
Observed Loss4
Observed Complex0
Frequencyn/a


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