nsv1194444
- Organism: Homo sapiens
- Study:nstd113 (Polyak et al. 2015)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:164,853
- 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: 1522 SVs from 86 studies. See in: genome view
Overlapping variant regions from other studies: 1522 SVs from 86 studies. See in: genome view
Overlapping variant regions from other studies: 399 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv1194444 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 111,532,261 | 111,697,113 |
| nsv1194444 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000007.13 | Chr7 | 111,172,317 | 111,337,169 |
| nsv1194444 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000007.12 | Chr7 | 110,959,553 | 111,124,405 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv7474931 | copy number loss | 38389 | Oligo aCGH | Probe signal intensity | nssv7465253, nssv7470396 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv7474931 | Remapped | Perfect | NC_000007.14:g.(?_ 111532261)_(111697 113_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 111,532,261 | 111,697,113 |
| nssv7474931 | Remapped | Perfect | NC_000007.13:g.(?_ 111172317)_(111337 169_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 111,172,317 | 111,337,169 |
| nssv7474931 | Submitted genomic | NC_000007.12:g.(?_ 110959553)_(111124 405_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 110,959,553 | 111,124,405 |