nsv443005
- Organism: Homo sapiens
- Study:nstd23 (Young et al. 2008)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Yes
- Clinical Assertions: No
- Region Size:2
- Description:11.1-kb deletion (b36.1) removes OR9G1
- Publication(s):Young et al. 2008
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: 129 SVs from 45 studies. See in: genome view
Overlapping variant regions from other studies: 132 SVs from 45 studies. See in: genome view
Overlapping variant regions from other studies: 38 SVs from 14 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv443005 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 56,703,068 | 56,703,069 |
| nsv443005 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000011.9 | Chr11 | 56,470,544 | 56,470,545 |
| nsv443005 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000011.8 | Chr11 | 56,227,120 | 56,227,121 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv1671995 | deletion | GM17034 | Sequencing | Sequence alignment | 1 | nssv1671906, nssv1671996, nssv1672049 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv1671995 | Remapped | Perfect | NC_000011.10:g.567 03068_56703069del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 56,703,068 | 56,703,069 |
| nssv1671995 | Remapped | Perfect | NC_000011.9:g.5647 0544_56470545del | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 56,470,544 | 56,470,545 |
| nssv1671995 | Submitted genomic | NC_000011.8:g.5622 7120_56227121del | NCBI36 (hg18) | NC_000011.8 | Chr11 | 56,227,120 | 56,227,121 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| nssv1671995 | 5 | GM17034 | PCR | Manual observation | Pass |