nsv830731
- Organism: Homo sapiens
- Study:nstd68 (Wong et al. 2006)
- Variant Type:copy number variation
- Method Type:BAC aCGH
- Submitted on:NCBI35 (hg17)
- Variant Calls:3
- Validation:Not tested
- Clinical Assertions: No
- Region Size:243,723
- 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: 777 SVs from 68 studies. See in: genome view
Overlapping variant regions from other studies: 777 SVs from 68 studies. See in: genome view
Overlapping variant regions from other studies: 48 SVs from 7 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv830731 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 92,253,736 | 92,497,458 |
| nsv830731 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000006.11 | Chr6 | 92,963,454 | 93,207,176 |
| nsv830731 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000006.9 | Chr6 | 93,020,175 | 93,263,897 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv1445512 | copy number gain | BAC aCGH | Probe signal intensity |
| nssv1445513 | copy number gain | BAC aCGH | Probe signal intensity |
| nssv1445514 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv1445512 | Remapped | Perfect | NC_000006.12:g.(92 253736_?)_(?_92497 458)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 92,253,736 | 92,497,458 |
| nssv1445513 | Remapped | Perfect | NC_000006.12:g.(92 253736_?)_(?_92497 458)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 92,253,736 | 92,497,458 |
| nssv1445514 | Remapped | Perfect | NC_000006.12:g.(92 253736_?)_(?_92497 458)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 92,253,736 | 92,497,458 |
| nssv1445512 | Remapped | Perfect | NC_000006.11:g.(92 963454_?)_(?_93207 176)dup | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 92,963,454 | 93,207,176 |
| nssv1445513 | Remapped | Perfect | NC_000006.11:g.(92 963454_?)_(?_93207 176)dup | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 92,963,454 | 93,207,176 |
| nssv1445514 | Remapped | Perfect | NC_000006.11:g.(92 963454_?)_(?_93207 176)dup | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 92,963,454 | 93,207,176 |
| nssv1445512 | Submitted genomic | NC_000006.9:g.(930 20175_?)_(?_932638 97)dup | NCBI35 (hg17) | NC_000006.9 | Chr6 | 93,020,175 | 93,263,897 | ||
| nssv1445513 | Submitted genomic | NC_000006.9:g.(930 20175_?)_(?_932638 97)dup | NCBI35 (hg17) | NC_000006.9 | Chr6 | 93,020,175 | 93,263,897 | ||
| nssv1445514 | Submitted genomic | NC_000006.9:g.(930 20175_?)_(?_932638 97)dup | NCBI35 (hg17) | NC_000006.9 | Chr6 | 93,020,175 | 93,263,897 |