nsv1195444
- 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:701,193
- 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: 3147 SVs from 104 studies. See in: genome view
Overlapping variant regions from other studies: 3155 SVs from 104 studies. See in: genome view
Overlapping variant regions from other studies: 1049 SVs from 29 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv1195444 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000022.11 | Chr22 | 20,385,034 | 21,086,226 |
| nsv1195444 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000022.10 | Chr22 | 20,739,324 | 21,440,515 |
| nsv1195444 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000022.9 | Chr22 | 19,069,324 | 19,770,515 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv7464057 | copy number loss | 15620 | Oligo aCGH | Probe signal intensity | nssv7459131, nssv7463556 |
| nssv7468109 | copy number loss | 22553 | Oligo aCGH | Probe signal intensity | nssv7461814 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv7464057 | Remapped | Perfect | NC_000022.11:g.(?_ 20385034)_(2108622 6_?)del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 20,385,034 | 21,086,226 |
| nssv7468109 | Remapped | Perfect | NC_000022.11:g.(?_ 20385034)_(2108622 6_?)del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 20,385,034 | 21,086,226 |
| nssv7464057 | Remapped | Perfect | NC_000022.10:g.(?_ 20739324)_(2144051 5_?)del | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 20,739,324 | 21,440,515 |
| nssv7468109 | Remapped | Perfect | NC_000022.10:g.(?_ 20739324)_(2144051 5_?)del | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 20,739,324 | 21,440,515 |
| nssv7464057 | Submitted genomic | NC_000022.9:g.(?_1 9069324)_(19770515 _?)del | NCBI36 (hg18) | NC_000022.9 | Chr22 | 19,069,324 | 19,770,515 | ||
| nssv7468109 | Submitted genomic | NC_000022.9:g.(?_1 9069324)_(19770515 _?)del | NCBI36 (hg18) | NC_000022.9 | Chr22 | 19,069,324 | 19,770,515 |