nsv834484
- Organism: Homo sapiens
- Study:nstd68 (Wong et al. 2006)
- Variant Type:copy number variation
- Method Type:BAC aCGH
- Submitted on:NCBI35 (hg17)
- Variant Calls:4
- Validation:Not tested
- Clinical Assertions: No
- Region Size:212,723
- Publication(s):Wong et al. 2006
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: 653 SVs from 63 studies. See in: genome view
Overlapping variant regions from other studies: 653 SVs from 63 studies. See in: genome view
Overlapping variant regions from other studies: 16 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 | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv834484 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 184,685,279 | 184,898,001 |
| nsv834484 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000002.11 | Chr2 | 185,550,006 | 185,762,728 |
| nsv834484 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000002.9 | Chr2 | 185,375,512 | 185,588,234 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv1442445 | copy number gain | BAC aCGH | Probe signal intensity |
| nssv1442446 | copy number gain | BAC aCGH | Probe signal intensity |
| nssv1442447 | copy number gain | BAC aCGH | Probe signal intensity |
| nssv1442448 | copy number gain | BAC aCGH | Probe signal intensity |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv1442445 | Remapped | Perfect | NC_000002.12:g.(18 4685279_?)_(?_1848 98001)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 184,685,279 | 184,898,001 |
| nssv1442446 | Remapped | Perfect | NC_000002.12:g.(18 4685279_?)_(?_1848 98001)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 184,685,279 | 184,898,001 |
| nssv1442447 | Remapped | Perfect | NC_000002.12:g.(18 4685279_?)_(?_1848 98001)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 184,685,279 | 184,898,001 |
| nssv1442448 | Remapped | Perfect | NC_000002.12:g.(18 4685279_?)_(?_1848 98001)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 184,685,279 | 184,898,001 |
| nssv1442445 | Remapped | Perfect | NC_000002.11:g.(18 5550006_?)_(?_1857 62728)dup | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 185,550,006 | 185,762,728 |
| nssv1442446 | Remapped | Perfect | NC_000002.11:g.(18 5550006_?)_(?_1857 62728)dup | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 185,550,006 | 185,762,728 |
| nssv1442447 | Remapped | Perfect | NC_000002.11:g.(18 5550006_?)_(?_1857 62728)dup | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 185,550,006 | 185,762,728 |
| nssv1442448 | Remapped | Perfect | NC_000002.11:g.(18 5550006_?)_(?_1857 62728)dup | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 185,550,006 | 185,762,728 |
| nssv1442445 | Submitted genomic | NC_000002.9:g.(185 375512_?)_(?_18558 8234)dup | NCBI35 (hg17) | NC_000002.9 | Chr2 | 185,375,512 | 185,588,234 | ||
| nssv1442446 | Submitted genomic | NC_000002.9:g.(185 375512_?)_(?_18558 8234)dup | NCBI35 (hg17) | NC_000002.9 | Chr2 | 185,375,512 | 185,588,234 | ||
| nssv1442447 | Submitted genomic | NC_000002.9:g.(185 375512_?)_(?_18558 8234)dup | NCBI35 (hg17) | NC_000002.9 | Chr2 | 185,375,512 | 185,588,234 | ||
| nssv1442448 | Submitted genomic | NC_000002.9:g.(185 375512_?)_(?_18558 8234)dup | NCBI35 (hg17) | NC_000002.9 | Chr2 | 185,375,512 | 185,588,234 |