nsv471777
- Organism: Homo sapiens
- Study:nstd34 (Hinds et al. 2005)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:NCBI35 (hg17)
- Variant Calls:1
- Validation:Yes
- Clinical Assertions: No
- Region Size:2,566
- Publication(s):Hinds et al. 2005
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: 317 SVs from 57 studies. See in: genome view
Overlapping variant regions from other studies: 317 SVs from 57 studies. See in: genome view
Overlapping variant regions from other studies: 6 SVs from 4 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv471777 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 34,602,114 | 34,604,679 |
| nsv471777 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000002.11 | Chr2 | 34,827,181 | 34,829,746 |
| nsv471777 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000002.9 | Chr2 | 34,738,832 | 34,741,397 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv646058 | copy number loss | Oligo aCGH | Probe signal intensity |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv646058 | Remapped | Perfect | NC_000002.12:g.346 02114_34604679del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 34,602,114 | 34,604,679 |
| nssv646058 | Remapped | Perfect | NC_000002.11:g.348 27181_34829746del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 34,827,181 | 34,829,746 |
| nssv646058 | Submitted genomic | NC_000002.9:g.3473 8832_34741397del | NCBI35 (hg17) | NC_000002.9 | Chr2 | 34,738,832 | 34,741,397 |
Validation Information
| Variant Call ID | Experiment ID | Method | Analysis | Result |
|---|---|---|---|---|
| nssv646058 | 2 | PCR | Manual observation | Pass |