nsv1010210
- 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:586,360
- 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: 1426 SVs from 72 studies. See in: genome view
Overlapping variant regions from other studies: 1427 SVs from 72 studies. See in: genome view
Overlapping variant regions from other studies: 385 SVs from 18 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv1010210 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 204,624,930 | 205,211,289 |
| nsv1010210 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000002.11 | Chr2 | 205,489,653 | 206,076,013 |
| nsv1010210 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000002.10 | Chr2 | 205,197,898 | 205,784,258 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv3729332 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv3729332 | Remapped | Perfect | NC_000002.12:g.(?_ 204624930)_(205211 289_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 204,624,930 | 205,211,289 |
| nssv3729332 | Remapped | Perfect | NC_000002.11:g.(?_ 205489653)_(206076 013_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 205,489,653 | 206,076,013 |
| nssv3729332 | Submitted genomic | NC_000002.10:g.(?_ 205197898)_(205784 258_?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 205,197,898 | 205,784,258 |