nsv1078720
- Organism: Homo sapiens
- Study:nstd99 (Thareja et al. 2015)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:65,402
- Publication(s):Thareja et al. 2015
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 1273 SVs from 39 studies. See in: genome view
Overlapping variant regions from other studies: 326 SVs from 25 studies. See in: genome view
Overlapping variant regions from other studies: 1280 SVs from 39 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv1078720 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000024.10 | ChrY | 56,821,552 | 56,886,953 |
| nsv1078720 | Remapped | Perfect | GRCh38.p12 | PATCHES | Second Pass | NW_009646209.1 | ChrY|NW_00 9646209.1 | 34,800 | 100,201 |
| nsv1078720 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000024.9 | ChrY | 58,967,699 | 59,033,100 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv3770166 | duplication | KWP1 | Sequencing | Read depth and paired-end mapping | 11,116 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv3770166 | Remapped | Perfect | NW_009646209.1:g.3 4800_100201dup | GRCh38.p12 | Second Pass | NW_009646209.1 | ChrY|NW_00 9646209.1 | 34,800 | 100,201 |
| nssv3770166 | Remapped | Perfect | NC_000024.10:g.568 21552_56886953dup | GRCh38.p12 | First Pass | NC_000024.10 | ChrY | 56,821,552 | 56,886,953 |
| nssv3770166 | Submitted genomic | NC_000024.9:g.5896 7699_59033100dup | GRCh37 (hg19) | NC_000024.9 | ChrY | 58,967,699 | 59,033,100 |