Variant DetailsVariant: nssv466397![](http://dgv.tcag.ca/gb2/gbrowse_img/dgv2_hg18/?name=chr7:104230122..104633030;width=800;overview=1) Internal ID | 15032707 | Landmark | | Location Information | | Cytoband | 7q22.1 | Allele length | Assembly | Allele length | hg38 | 402909 | hg19 | 402909 | hg18 | 402909 |
| Variant Type | CNV insertion | Copy Number | | Allele State | | Allele Origin | | Probe Count | | Validation Flag | | Merged Status | S | Merged Variants | nsv436902 | Supporting Variants | | Samples | NA18505 | Known Genes | KMT2E, KMT2E-AS1, LHFPL3, LHFPL3-AS1, LHFPL3-AS2, LINC01004, SRPK2 | Method | Sequencing | Analysis | The best placements of paired-ends were used for identifying several different categories of SV: (i) deletions (size sd=3 kb) were identified from two or more overlapping discordant paired-ends with paired-end span >cutoff (with the condition that both putative breakpoints are spanned); (ii) simple insertions (3 kb > ssi > 2 kb) were identified from two or more overlapping discordant paired-ends with paired-end span < cutoff; (iii) mated insertions were identified from two unpaired SVs that lie in nearby (i.e. 6 kb) genomic regions and had =2 paired-ends linking to a common, distant genomic region <100 kb; mated insertions may involve tandem duplications or events related to transpositions. (iv) Inversions were called when =2 paired-ends matched different strands. (v) Unmated insertions were predicted from =2 paired ends that support a rearrangement of a genomic region in which loci change relative order without changing the relative orientation (i.e., the strand). (These events are similar to mated insertions; however, unmated insertions have only one assigned breakpoint.) In each case we required at least two paired-ends to support a predicted SV. Furthermore, at least one paired-end had to match the human reference genome at sequence identity =97%. In addition, ends were required to yield best-scoring sequence alignments genome-wide to their respective region as assessed by Blat. | Platform | 454 | Comments | Unmated-Insertion | Reference | Korbel_et_al_2007 | Pubmed ID | 17901297 | Accession Number(s) | nssv466397
| Frequency | Sample Size | 2 | Observed Gain | 1 | Observed Loss | 0 | Observed Complex | 0 | Frequency | n/a |
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