nsv1051292
- Organism: Homo sapiens
- Study:nstd100 (Coe et al. 2014)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:48,821
- 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: 608 SVs from 74 studies. See in: genome view
Overlapping variant regions from other studies: 609 SVs from 74 studies. See in: genome view
Overlapping variant regions from other studies: 209 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv1051292 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 10,395,301 | 10,444,121 |
| nsv1051292 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000012.11 | Chr12 | 10,547,900 | 10,596,720 |
| nsv1051292 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000012.10 | Chr12 | 10,439,167 | 10,487,987 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv3513726 | copy number loss | SNP array | Probe signal intensity |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv3513726 | Remapped | Perfect | NC_000012.12:g.(?_ 10395301)_(1044412 1_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 10,395,301 | 10,444,121 |
| nssv3513726 | Remapped | Perfect | NC_000012.11:g.(?_ 10547900)_(1059672 0_?)del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 10,547,900 | 10,596,720 |
| nssv3513726 | Submitted genomic | NC_000012.10:g.(?_ 10439167)_(1048798 7_?)del | NCBI36 (hg18) | NC_000012.10 | Chr12 | 10,439,167 | 10,487,987 |