nsv1046787
- Organism: Homo sapiens
- Study:nstd100 (Coe et al. 2014)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:NCBI36 (hg18)
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:135,486
- Publication(s):Coe et al. 2014
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: 364 SVs from 50 studies. See in: genome view
Overlapping variant regions from other studies: 364 SVs from 50 studies. See in: genome view
Overlapping variant regions from other studies: 154 SVs from 16 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv1046787 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000013.11 | Chr13 | 26,769,025 | 26,904,510 |
| nsv1046787 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000013.10 | Chr13 | 27,343,162 | 27,478,647 |
| nsv1046787 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000013.9 | Chr13 | 26,241,162 | 26,376,647 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv3466194 | copy number loss | 9879244 | Oligo aCGH | Probe signal intensity | nssv3476163, nssv3482486 |
| nssv3474340 | copy number gain | 9871349 | Oligo aCGH | Probe signal intensity | nssv3456870, nssv3473632 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv3466194 | Remapped | Perfect | NC_000013.11:g.(?_ 26769025)_(2690451 0_?)del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 26,769,025 | 26,904,510 |
| nssv3474340 | Remapped | Perfect | NC_000013.11:g.(?_ 26769025)_(2690451 0_?)dup | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 26,769,025 | 26,904,510 |
| nssv3466194 | Remapped | Perfect | NC_000013.10:g.(?_ 27343162)_(2747864 7_?)del | GRCh37.p13 | First Pass | NC_000013.10 | Chr13 | 27,343,162 | 27,478,647 |
| nssv3474340 | Remapped | Perfect | NC_000013.10:g.(?_ 27343162)_(2747864 7_?)dup | GRCh37.p13 | First Pass | NC_000013.10 | Chr13 | 27,343,162 | 27,478,647 |
| nssv3466194 | Submitted genomic | NC_000013.9:g.(?_2 6241162)_(26376647 _?)del | NCBI36 (hg18) | NC_000013.9 | Chr13 | 26,241,162 | 26,376,647 | ||
| nssv3474340 | Submitted genomic | NC_000013.9:g.(?_2 6241162)_(26376647 _?)dup | NCBI36 (hg18) | NC_000013.9 | Chr13 | 26,241,162 | 26,376,647 |