nsv947448
- Organism: Homo sapiens
- Study:nstd82 (Sudmant et al. 2013)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:NCBI36 (hg18)
- Variant Calls:4
- Validation:Not tested
- Clinical Assertions: No
- Region Size:23,102
- Publication(s):Sudmant et al. 2013
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: 685 SVs from 74 studies. See in: genome view
Overlapping variant regions from other studies: 688 SVs from 74 studies. See in: genome view
Overlapping variant regions from other studies: 293 SVs from 26 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv947448 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 169,247,428 | 169,270,529 |
| nsv947448 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000001.10 | Chr1 | 169,216,666 | 169,239,767 |
| nsv947448 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000001.9 | Chr1 | 167,483,290 | 167,506,391 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv2759183 | deletion | HGDP00521 | Sequencing | Read depth | 0 | 17,171 |
| nssv2760835 | deletion | HGDP01307 | Sequencing | Read depth | 1 | 17,161 |
| nssv2763928 | deletion | HGDP00665 | Sequencing | Read depth | 1 | 17,185 |
| nssv2764710 | deletion | HGDP00456 | Sequencing | Read depth | 1 | 17,189 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv2759183 | Remapped | Perfect | NC_000001.11:g.(?_ 169247428)_(169270 529_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 169,247,428 | 169,270,529 |
| nssv2760835 | Remapped | Perfect | NC_000001.11:g.(?_ 169247428)_(169270 529_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 169,247,428 | 169,270,529 |
| nssv2763928 | Remapped | Perfect | NC_000001.11:g.(?_ 169247428)_(169270 529_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 169,247,428 | 169,270,529 |
| nssv2764710 | Remapped | Perfect | NC_000001.11:g.(?_ 169247428)_(169270 529_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 169,247,428 | 169,270,529 |
| nssv2759183 | Remapped | Perfect | NC_000001.10:g.(?_ 169216666)_(169239 767_?)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 169,216,666 | 169,239,767 |
| nssv2760835 | Remapped | Perfect | NC_000001.10:g.(?_ 169216666)_(169239 767_?)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 169,216,666 | 169,239,767 |
| nssv2763928 | Remapped | Perfect | NC_000001.10:g.(?_ 169216666)_(169239 767_?)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 169,216,666 | 169,239,767 |
| nssv2764710 | Remapped | Perfect | NC_000001.10:g.(?_ 169216666)_(169239 767_?)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 169,216,666 | 169,239,767 |
| nssv2759183 | Submitted genomic | NC_000001.9:g.(?_1 67483290)_(1675063 91_?)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 167,483,290 | 167,506,391 | ||
| nssv2760835 | Submitted genomic | NC_000001.9:g.(?_1 67483290)_(1675063 91_?)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 167,483,290 | 167,506,391 | ||
| nssv2763928 | Submitted genomic | NC_000001.9:g.(?_1 67483290)_(1675063 91_?)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 167,483,290 | 167,506,391 | ||
| nssv2764710 | Submitted genomic | NC_000001.9:g.(?_1 67483290)_(1675063 91_?)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 167,483,290 | 167,506,391 |