A curated catalogue of human genomic structural variation

Variant Details

Variant: dgv256n67

Internal ID20146768
Location Information
TypeCoordinatesAssemblyOther Links
chr12:1328783..1329490hg38UCSC Ensembl
chr12:1437949..1438656hg19UCSC Ensembl
chr12:1308210..1308917hg18UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv826178, nsv826179
SamplesAK20, NA18951, AK16, AK2, NA18526, NA18570, AK18, NA18969, NA18972, NA18947, NA18542, NA18949, AK8, NA18566, AK14, NA18592, NA18547, NA18973, NA18537, NA18968, AK10, NA18564, NA18942, NA18997, AK12, AK4, NA18582, NA18999, NA18552, AK6
Known GenesERC1
MethodOligo aCGH
AnalysisTo select parameters for calling CNVs (that is, the statistical threshold of the ADM2 algorithm, the minimum +/- log2 ratio and the minimum number of consecutive probes in a CNV interval), we calculated the sensitivity and positive predictive value based on the comparison of aCGH-based CNV calls (using our high-resolution Agilent 24M platform) with read-depth sequence data for two samples from Korean individuals (AK1 and AK2). We attempted to obtain `absolute' copy number status of the sample from NA10851, which was used as the reference sample for aCGH experiments in this study. For this, we used read-depth data for NA10851 obtained from massively parallel sequencing by the Illumina GA II data. The read-depth data represent the copy number status of NA10851 as compared to the human reference genome (hg18) because the short read sequences were aligned to hg18.
PlatformAgilent 24M aCGH
Pubmed ID20364138
Accession Number(s)dgv256n67
Sample Size31
Observed Gain30
Observed Loss0
Observed Complex0

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