A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv832325



Internal ID16109508
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:7141408..7316916hg38UCSC Ensembl
Outerchr12:7294004..7469512hg19UCSC Ensembl
Outerchr12:7185271..7360779hg18UCSC Ensembl
Outerchr12:7185271..7360779hg17UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38175509
hg19175509
hg18175509
hg17175509
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1449588, nssv1449587
Samples
Known GenesACSM4, CLSTN3, PEX5
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)nsv832325
Frequency
Sample Size95
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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