A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv829190



Internal ID16438350
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:35249265..35250298hg38UCSC Ensembl
Innerchr22:35645258..35646291hg19UCSC Ensembl
Innerchr22:33975258..33976291hg18UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg381034
hg191034
hg181034
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv765n67
Supporting Variantsnssv1427226, nssv1434843, nssv1423094, nssv1438560, nssv1437198, nssv1437274, nssv1422337, nssv1440782, nssv1430302, nssv1425475, nssv1431719
SamplesAK2, NA18947, NA18592, AK6, AK14, NA18951, NA18570, NA18542, NA18564, NA18552, NA18997
Known Genes
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
Comments
ReferencePark_et_al_2010
Pubmed ID20364138
Accession Number(s)nsv829190
Frequency
Sample Size31
Observed Gain4
Observed Loss7
Observed Complex0
Frequencyn/a


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