Variant DetailsVariant: nsv471498 Internal ID | 15211978 | Landmark | | Location Information | | Cytoband | 5q13.2 | Allele length | Assembly | Allele length | hg38 | 469689 | hg19 | 469689 | hg18 | 469689 | hg17 | 469689 |
| Variant Type | CNV gain | Copy Number | | Allele State | | Allele Origin | | Probe Count | | Validation Flag | | Merged Status | M | Merged Variants | | Supporting Variants | nssv547837, nssv547836, nssv547835 | Samples | NA18507, YH, JDW | Known Genes | GTF2H2, GTF2H2B, GTF2H2C, GTF2H2D, GUSBP3, GUSBP9, LOC100272216, OCLN, SMA4 | 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 | LOC728340 | Reference | Alkan_et_al_2009 | Pubmed ID | 19718026 | Accession Number(s) | nsv471498
| Frequency | Sample Size | 3 | Observed Gain | 3 | Observed Loss | 0 | Observed Complex | 0 | Frequency | n/a |
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