nsv428450
- Organism: Homo sapiens
- Study:nstd8 (Perry et al. 2008b)
- Variant Type:copy number variation
- Method Type:BAC aCGH
- Submitted on:NCBI36 (hg18)
- Variant Calls:14
- Validation:Not tested
- Clinical Assertions: No
- Region Size:333,290
- Publication(s):Perry 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: 922 SVs from 79 studies. See in: genome view
Overlapping variant regions from other studies: 922 SVs from 79 studies. See in: genome view
Overlapping variant regions from other studies: 368 SVs from 25 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv428450 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 131,676,282 | 132,009,571 |
| nsv428450 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000004.11 | Chr4 | 132,597,437 | 132,930,726 |
| nsv428450 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000004.10 | Chr4 | 132,816,887 | 133,150,176 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv454623 | copy number gain | HGDP00467 | BAC aCGH | Probe signal intensity | 75 |
| nssv454624 | copy number gain | HGDP00476 | BAC aCGH | Probe signal intensity | 69 |
| nssv450133 | copy number gain | HGDP00473 | BAC aCGH | Probe signal intensity | 64 |
| nssv450134 | copy number gain | HGDP00478 | BAC aCGH | Probe signal intensity | 38 |
| nssv450135 | copy number gain | HGDP00984 | BAC aCGH | Probe signal intensity | 75 |
| nssv450136 | copy number gain | HGDP01086 | BAC aCGH | Probe signal intensity | 52 |
| nssv450137 | copy number gain | HGDP01088 | BAC aCGH | Probe signal intensity | 78 |
| nssv450138 | copy number gain | NA18498 | BAC aCGH | Probe signal intensity | 97 |
| nssv454627 | copy number gain | HGDP00449 | BAC aCGH | Probe signal intensity | 126 |
| nssv454628 | copy number gain | HGDP00450 | BAC aCGH | Probe signal intensity | 88 |
| nssv454629 | copy number gain | HGDP00462 | BAC aCGH | Probe signal intensity | 83 |
| nssv454630 | copy number gain | HGDP00471 | BAC aCGH | Probe signal intensity | 73 |
| nssv450139 | copy number gain | HGDP00463 | BAC aCGH | Probe signal intensity | 90 |
| nssv450141 | copy number gain | HGDP01089 | BAC aCGH | Probe signal intensity | 65 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv454623 | Remapped | Perfect | NC_000004.12:g.(?_ 131676282)_(131874 112_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 131,676,282 | 131,874,112 |
| nssv454624 | Remapped | Perfect | NC_000004.12:g.(?_ 131676282)_(131874 112_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 131,676,282 | 131,874,112 |
| nssv450133 | Remapped | Perfect | NC_000004.12:g.(?_ 131676282)_(132009 571_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 131,676,282 | 132,009,571 |
| nssv450134 | Remapped | Perfect | NC_000004.12:g.(?_ 131676282)_(132009 571_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 131,676,282 | 132,009,571 |
| nssv450135 | Remapped | Perfect | NC_000004.12:g.(?_ 131676282)_(132009 571_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 131,676,282 | 132,009,571 |
| nssv450136 | Remapped | Perfect | NC_000004.12:g.(?_ 131676282)_(132009 571_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 131,676,282 | 132,009,571 |
| nssv450137 | Remapped | Perfect | NC_000004.12:g.(?_ 131676282)_(132009 571_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 131,676,282 | 132,009,571 |
| nssv450138 | Remapped | Perfect | NC_000004.12:g.(?_ 131676282)_(132009 571_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 131,676,282 | 132,009,571 |
| nssv454627 | Remapped | Perfect | NC_000004.12:g.(?_ 131676282)_(132009 571_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 131,676,282 | 132,009,571 |
| nssv454628 | Remapped | Perfect | NC_000004.12:g.(?_ 131676282)_(132009 571_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 131,676,282 | 132,009,571 |
| nssv454629 | Remapped | Perfect | NC_000004.12:g.(?_ 131676282)_(132009 571_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 131,676,282 | 132,009,571 |
| nssv454630 | Remapped | Perfect | NC_000004.12:g.(?_ 131676282)_(132009 571_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 131,676,282 | 132,009,571 |
| nssv450139 | Remapped | Perfect | NC_000004.12:g.(?_ 131723523)_(132009 571_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 131,723,523 | 132,009,571 |
| nssv450141 | Remapped | Perfect | NC_000004.12:g.(?_ 131836052)_(132009 571_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 131,836,052 | 132,009,571 |
| nssv454623 | Remapped | Perfect | NC_000004.11:g.(?_ 132597437)_(132795 267_?)dup | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 132,597,437 | 132,795,267 |
| nssv454624 | Remapped | Perfect | NC_000004.11:g.(?_ 132597437)_(132795 267_?)dup | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 132,597,437 | 132,795,267 |
| nssv450133 | Remapped | Perfect | NC_000004.11:g.(?_ 132597437)_(132930 726_?)dup | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 132,597,437 | 132,930,726 |
| nssv450134 | Remapped | Perfect | NC_000004.11:g.(?_ 132597437)_(132930 726_?)dup | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 132,597,437 | 132,930,726 |
| nssv450135 | Remapped | Perfect | NC_000004.11:g.(?_ 132597437)_(132930 726_?)dup | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 132,597,437 | 132,930,726 |
| nssv450136 | Remapped | Perfect | NC_000004.11:g.(?_ 132597437)_(132930 726_?)dup | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 132,597,437 | 132,930,726 |
| nssv450137 | Remapped | Perfect | NC_000004.11:g.(?_ 132597437)_(132930 726_?)dup | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 132,597,437 | 132,930,726 |
| nssv450138 | Remapped | Perfect | NC_000004.11:g.(?_ 132597437)_(132930 726_?)dup | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 132,597,437 | 132,930,726 |
| nssv454627 | Remapped | Perfect | NC_000004.11:g.(?_ 132597437)_(132930 726_?)dup | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 132,597,437 | 132,930,726 |
| nssv454628 | Remapped | Perfect | NC_000004.11:g.(?_ 132597437)_(132930 726_?)dup | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 132,597,437 | 132,930,726 |
| nssv454629 | Remapped | Perfect | NC_000004.11:g.(?_ 132597437)_(132930 726_?)dup | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 132,597,437 | 132,930,726 |
| nssv454630 | Remapped | Perfect | NC_000004.11:g.(?_ 132597437)_(132930 726_?)dup | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 132,597,437 | 132,930,726 |
| nssv450139 | Remapped | Perfect | NC_000004.11:g.(?_ 132644678)_(132930 726_?)dup | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 132,644,678 | 132,930,726 |
| nssv450141 | Remapped | Perfect | NC_000004.11:g.(?_ 132757207)_(132930 726_?)dup | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 132,757,207 | 132,930,726 |
| nssv454623 | Submitted genomic | NC_000004.10:g.(?_ 132816887)_(133014 717_?)dup | NCBI36 (hg18) | NC_000004.10 | Chr4 | 132,816,887 | 133,014,717 | ||
| nssv454624 | Submitted genomic | NC_000004.10:g.(?_ 132816887)_(133014 717_?)dup | NCBI36 (hg18) | NC_000004.10 | Chr4 | 132,816,887 | 133,014,717 | ||
| nssv450133 | Submitted genomic | NC_000004.10:g.(?_ 132816887)_(133150 176_?)dup | NCBI36 (hg18) | NC_000004.10 | Chr4 | 132,816,887 | 133,150,176 | ||
| nssv450134 | Submitted genomic | NC_000004.10:g.(?_ 132816887)_(133150 176_?)dup | NCBI36 (hg18) | NC_000004.10 | Chr4 | 132,816,887 | 133,150,176 | ||
| nssv450135 | Submitted genomic | NC_000004.10:g.(?_ 132816887)_(133150 176_?)dup | NCBI36 (hg18) | NC_000004.10 | Chr4 | 132,816,887 | 133,150,176 | ||
| nssv450136 | Submitted genomic | NC_000004.10:g.(?_ 132816887)_(133150 176_?)dup | NCBI36 (hg18) | NC_000004.10 | Chr4 | 132,816,887 | 133,150,176 | ||
| nssv450137 | Submitted genomic | NC_000004.10:g.(?_ 132816887)_(133150 176_?)dup | NCBI36 (hg18) | NC_000004.10 | Chr4 | 132,816,887 | 133,150,176 | ||
| nssv450138 | Submitted genomic | NC_000004.10:g.(?_ 132816887)_(133150 176_?)dup | NCBI36 (hg18) | NC_000004.10 | Chr4 | 132,816,887 | 133,150,176 | ||
| nssv454627 | Submitted genomic | NC_000004.10:g.(?_ 132816887)_(133150 176_?)dup | NCBI36 (hg18) | NC_000004.10 | Chr4 | 132,816,887 | 133,150,176 | ||
| nssv454628 | Submitted genomic | NC_000004.10:g.(?_ 132816887)_(133150 176_?)dup | NCBI36 (hg18) | NC_000004.10 | Chr4 | 132,816,887 | 133,150,176 | ||
| nssv454629 | Submitted genomic | NC_000004.10:g.(?_ 132816887)_(133150 176_?)dup | NCBI36 (hg18) | NC_000004.10 | Chr4 | 132,816,887 | 133,150,176 | ||
| nssv454630 | Submitted genomic | NC_000004.10:g.(?_ 132816887)_(133150 176_?)dup | NCBI36 (hg18) | NC_000004.10 | Chr4 | 132,816,887 | 133,150,176 | ||
| nssv450139 | Submitted genomic | NC_000004.10:g.(?_ 132864128)_(133150 176_?)dup | NCBI36 (hg18) | NC_000004.10 | Chr4 | 132,864,128 | 133,150,176 | ||
| nssv450141 | Submitted genomic | NC_000004.10:g.(?_ 132976657)_(133150 176_?)dup | NCBI36 (hg18) | NC_000004.10 | Chr4 | 132,976,657 | 133,150,176 |