nsv471800
- 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:3,908
- 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: 368 SVs from 53 studies. See in: genome view
Overlapping variant regions from other studies: 368 SVs from 53 studies. See in: genome view
Overlapping variant regions from other studies: 7 SVs from 5 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv471800 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000018.10 | Chr18 | 42,473,807 | 42,477,714 |
| nsv471800 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000018.9 | Chr18 | 40,053,772 | 40,057,679 |
| nsv471800 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000018.8 | Chr18 | 38,307,770 | 38,311,677 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv646081 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv646081 | Remapped | Perfect | NC_000018.10:g.424 73807_42477714del | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 42,473,807 | 42,477,714 |
| nssv646081 | Remapped | Perfect | NC_000018.9:g.4005 3772_40057679del | GRCh37.p13 | First Pass | NC_000018.9 | Chr18 | 40,053,772 | 40,057,679 |
| nssv646081 | Submitted genomic | NC_000018.8:g.3830 7770_38311677del | NCBI35 (hg17) | NC_000018.8 | Chr18 | 38,307,770 | 38,311,677 |
Validation Information
| Variant Call ID | Experiment ID | Method | Analysis | Result |
|---|---|---|---|---|
| nssv646081 | 2 | PCR | Manual observation | Pass |