nsv821767
- Organism: Homo sapiens
- Study:nstd67 (Park et al. 2010)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:NCBI36 (hg18)
- Variant Calls:4
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1,239
- Publication(s):Park et al. 2010
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: 308 SVs from 57 studies. See in: genome view
Overlapping variant regions from other studies: 308 SVs from 57 studies. See in: genome view
Overlapping variant regions from other studies: 144 SVs from 19 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv821767 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 159,103,282 | 159,104,520 |
| nsv821767 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000002.11 | Chr2 | 159,959,794 | 159,961,032 |
| nsv821767 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000002.10 | Chr2 | 159,668,040 | 159,669,278 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv1422472 | copy number loss | NA18552 | Oligo aCGH | Probe signal intensity | 610 |
| nssv1423238 | copy number loss | NA18999 | Oligo aCGH | Probe signal intensity | 674 |
| nssv1425602 | copy number gain | AK4 | Oligo aCGH | Probe signal intensity | 712 |
| nssv1435745 | copy number loss | NA18566 | Oligo aCGH | Probe signal intensity | 605 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv1422472 | Remapped | Perfect | NC_000002.12:g.(?_ 159103282)_(159104 520_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 159,103,282 | 159,104,520 |
| nssv1423238 | Remapped | Perfect | NC_000002.12:g.(?_ 159103282)_(159104 520_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 159,103,282 | 159,104,520 |
| nssv1425602 | Remapped | Perfect | NC_000002.12:g.(?_ 159103282)_(159104 520_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 159,103,282 | 159,104,520 |
| nssv1435745 | Remapped | Perfect | NC_000002.12:g.(?_ 159103282)_(159104 520_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 159,103,282 | 159,104,520 |
| nssv1422472 | Remapped | Perfect | NC_000002.11:g.(?_ 159959794)_(159961 032_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 159,959,794 | 159,961,032 |
| nssv1423238 | Remapped | Perfect | NC_000002.11:g.(?_ 159959794)_(159961 032_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 159,959,794 | 159,961,032 |
| nssv1425602 | Remapped | Perfect | NC_000002.11:g.(?_ 159959794)_(159961 032_?)dup | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 159,959,794 | 159,961,032 |
| nssv1435745 | Remapped | Perfect | NC_000002.11:g.(?_ 159959794)_(159961 032_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 159,959,794 | 159,961,032 |
| nssv1422472 | Submitted genomic | NC_000002.10:g.(?_ 159668040)_(159669 278_?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 159,668,040 | 159,669,278 | ||
| nssv1423238 | Submitted genomic | NC_000002.10:g.(?_ 159668040)_(159669 278_?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 159,668,040 | 159,669,278 | ||
| nssv1425602 | Submitted genomic | NC_000002.10:g.(?_ 159668040)_(159669 278_?)dup | NCBI36 (hg18) | NC_000002.10 | Chr2 | 159,668,040 | 159,669,278 | ||
| nssv1435745 | Submitted genomic | NC_000002.10:g.(?_ 159668040)_(159669 278_?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 159,668,040 | 159,669,278 |