nsv915129
- Organism: Homo sapiens
- Study:nstd71 (Xu et al. 2011)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:48,976
- Publication(s):Xu et al. 2011
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: 1282 SVs from 96 studies. See in: genome view
Overlapping variant regions from other studies: 1291 SVs from 96 studies. See in: genome view
Overlapping variant regions from other studies: 593 SVs from 27 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nsv915129 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000022.11 | Chr22 | 22,164,396 | 22,164,396 | 22,213,371 | 22,213,371 |
| nsv915129 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000022.10 | Chr22 | 22,518,789 | 22,519,771 | 22,563,068 | 22,567,762 |
| nsv915129 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000022.9 | Chr22 | 20,848,789 | 20,849,771 | 20,893,068 | 20,897,762 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv1572880 | copy number gain | IS33188 | SNP array | SNP genotyping analysis | 19 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nssv1572880 | Remapped | Good | NC_000022.11:g.(22 164396_22164396)_( 22213371_22213371) dup | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 22,164,396 | 22,164,396 | 22,213,371 | 22,213,371 |
| nssv1572880 | Remapped | Perfect | NC_000022.10:g.(22 518789_22519771)_( 22563068_22567762) dup | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 22,518,789 | 22,519,771 | 22,563,068 | 22,567,762 |
| nssv1572880 | Submitted genomic | NC_000022.9:g.(208 48789_20849771)_(2 0893068_20897762)d up | NCBI36 (hg18) | NC_000022.9 | Chr22 | 20,848,789 | 20,849,771 | 20,893,068 | 20,897,762 |