nsv1194031
- Organism: Homo sapiens
- Study:nstd113 (Polyak et al. 2015)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:NCBI36 (hg18)
- Variant Calls:5
- Validation:Not tested
- Clinical Assertions: No
- Region Size:50,520
- Publication(s):Polyak 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: 675 SVs from 75 studies. See in: genome view
Overlapping variant regions from other studies: 675 SVs from 75 studies. See in: genome view
Overlapping variant regions from other studies: 284 SVs from 22 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv1194031 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 134,287,462 | 134,337,981 |
| nsv1194031 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000011.9 | Chr11 | 134,157,356 | 134,207,875 |
| nsv1194031 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000011.8 | Chr11 | 133,662,566 | 133,713,085 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv7461083 | copy number loss | 19021 | Oligo aCGH | Probe signal intensity | nssv7462003, nssv7465695 |
| nssv7464104 | copy number gain | 30704 | Oligo aCGH | Probe signal intensity | 5 |
| nssv7465302 | copy number gain | 31992 | Oligo aCGH | Probe signal intensity | nssv7460990 |
| nssv7467657 | copy number gain | 16310 | Oligo aCGH | Probe signal intensity | nssv7467654, nssv7468969, nssv7473324 |
| nssv7472762 | copy number loss | 16106 | Oligo aCGH | Probe signal intensity | nssv7459906 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv7461083 | Remapped | Perfect | NC_000011.10:g.(?_ 134287462)_(134337 981_?)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 134,287,462 | 134,337,981 |
| nssv7464104 | Remapped | Perfect | NC_000011.10:g.(?_ 134287462)_(134337 981_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 134,287,462 | 134,337,981 |
| nssv7465302 | Remapped | Perfect | NC_000011.10:g.(?_ 134287462)_(134337 981_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 134,287,462 | 134,337,981 |
| nssv7467657 | Remapped | Perfect | NC_000011.10:g.(?_ 134287462)_(134337 981_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 134,287,462 | 134,337,981 |
| nssv7472762 | Remapped | Perfect | NC_000011.10:g.(?_ 134287462)_(134337 981_?)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 134,287,462 | 134,337,981 |
| nssv7461083 | Remapped | Perfect | NC_000011.9:g.(?_1 34157356)_(1342078 75_?)del | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 134,157,356 | 134,207,875 |
| nssv7464104 | Remapped | Perfect | NC_000011.9:g.(?_1 34157356)_(1342078 75_?)dup | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 134,157,356 | 134,207,875 |
| nssv7465302 | Remapped | Perfect | NC_000011.9:g.(?_1 34157356)_(1342078 75_?)dup | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 134,157,356 | 134,207,875 |
| nssv7467657 | Remapped | Perfect | NC_000011.9:g.(?_1 34157356)_(1342078 75_?)dup | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 134,157,356 | 134,207,875 |
| nssv7472762 | Remapped | Perfect | NC_000011.9:g.(?_1 34157356)_(1342078 75_?)del | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 134,157,356 | 134,207,875 |
| nssv7461083 | Submitted genomic | NC_000011.8:g.(?_1 33662566)_(1337130 85_?)del | NCBI36 (hg18) | NC_000011.8 | Chr11 | 133,662,566 | 133,713,085 | ||
| nssv7464104 | Submitted genomic | NC_000011.8:g.(?_1 33662566)_(1337130 85_?)dup | NCBI36 (hg18) | NC_000011.8 | Chr11 | 133,662,566 | 133,713,085 | ||
| nssv7465302 | Submitted genomic | NC_000011.8:g.(?_1 33662566)_(1337130 85_?)dup | NCBI36 (hg18) | NC_000011.8 | Chr11 | 133,662,566 | 133,713,085 | ||
| nssv7467657 | Submitted genomic | NC_000011.8:g.(?_1 33662566)_(1337130 85_?)dup | NCBI36 (hg18) | NC_000011.8 | Chr11 | 133,662,566 | 133,713,085 | ||
| nssv7472762 | Submitted genomic | NC_000011.8:g.(?_1 33662566)_(1337130 85_?)del | NCBI36 (hg18) | NC_000011.8 | Chr11 | 133,662,566 | 133,713,085 |