Internal ID | 15211990 |
Landmark | |
Location Information | |
Cytoband | 2q23.3 |
Allele length | Assembly | Allele length | hg38 | 31784 | hg19 | 31784 | hg18 | 31784 | hg17 | 31784 |
|
Variant Type | CNV gain |
Copy Number | |
Allele State | |
Allele Origin | |
Probe Count | |
Validation Flag | |
Merged Status | M |
Merged Variants | |
Supporting Variants | nssv547869, nssv547868, nssv547870 |
Samples | NA18507, YH, JDW |
Known Genes | NEB |
Method | Sequencing |
Analysis | We constructed duplication maps for each of the three genomes and estimated the absolute copy number of each duplication interval larger than 20 kb in length. We considered a given segment to be duplicated within an individual if the median estimated copy number for that individual was >2.5. |
Platform | Illumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen |
Comments | NEB |
Reference | Alkan_et_al_2009 |
Pubmed ID | 19718026 |
Accession Number(s) | nsv471510
|
Frequency | Sample Size | 3 | Observed Gain | 3 | Observed Loss | 0 | Observed Complex | 0 | Frequency | n/a |
|