A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv829716



Internal ID16106899
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:125928159..126116976hg38UCSC Ensembl
Outerchr3:125647002..125835819hg19UCSC Ensembl
Outerchr3:127129692..127318509hg18UCSC Ensembl
Outerchr3:127129700..127318517hg17UCSC Ensembl
Cytoband3q21.2
Allele length
AssemblyAllele length
hg38188818
hg19188818
hg18188818
hg17188818
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1443061, nssv1443063, nssv1443060
Samples
Known GenesALDH1L1, ALDH1L1-AS1, ALG1L, FAM86JP, ROPN1B, SLC41A3
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)nsv829716
Frequency
Sample Size95
Observed Gain2
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer