nsv1189989
- Organism: Homo sapiens
- Study:nstd113 (Polyak et al. 2015)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:NCBI36 (hg18)
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:393,956
- 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: 1159 SVs from 79 studies. See in: genome view
Overlapping variant regions from other studies: 1159 SVs from 79 studies. See in: genome view
Overlapping variant regions from other studies: 386 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv1189989 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 83,642,133 | 84,036,088 |
| nsv1189989 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000012.11 | Chr12 | 84,035,912 | 84,429,867 |
| nsv1189989 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000012.10 | Chr12 | 82,560,043 | 82,953,998 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv7459514 | copy number gain | 46017 | Oligo aCGH | Probe signal intensity | nssv7468956 |
| nssv7465483 | copy number gain | 44427 | Oligo aCGH | Probe signal intensity | 5 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv7459514 | Remapped | Perfect | NC_000012.12:g.(?_ 83642133)_(8403608 8_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 83,642,133 | 84,036,088 |
| nssv7465483 | Remapped | Perfect | NC_000012.12:g.(?_ 83642133)_(8403608 8_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 83,642,133 | 84,036,088 |
| nssv7459514 | Remapped | Perfect | NC_000012.11:g.(?_ 84035912)_(8442986 7_?)dup | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 84,035,912 | 84,429,867 |
| nssv7465483 | Remapped | Perfect | NC_000012.11:g.(?_ 84035912)_(8442986 7_?)dup | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 84,035,912 | 84,429,867 |
| nssv7459514 | Submitted genomic | NC_000012.10:g.(?_ 82560043)_(8295399 8_?)dup | NCBI36 (hg18) | NC_000012.10 | Chr12 | 82,560,043 | 82,953,998 | ||
| nssv7465483 | Submitted genomic | NC_000012.10:g.(?_ 82560043)_(8295399 8_?)dup | NCBI36 (hg18) | NC_000012.10 | Chr12 | 82,560,043 | 82,953,998 |