nsv471707
- Organism: Homo sapiens
- Study:nstd32 (Sharp et al. 2005)
- Variant Type:copy number variation
- Method Type:BAC aCGH
- Submitted on:NCBI34 (hg16)
- Variant Calls:7
- Validation:Not tested
- Clinical Assertions: No
- Region Size:152,000
- Publication(s):Sharp 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: 950 SVs from 84 studies. See in: genome view
Overlapping variant regions from other studies: 952 SVs from 84 studies. See in: genome view
Overlapping variant regions from other studies: 5 SVs from 3 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv471707 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000021.9 | Chr21 | 13,383,154 | 13,535,153 |
| nsv471707 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000021.8 | Chr21 | 14,755,475 | 14,907,474 |
| nsv471707 | Submitted genomic | NCBI34 (hg16) | Primary Assembly | NC_000021.6 | Chr21 | 13,677,346 | 13,829,345 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv549201 | copy number loss | GM10469A | BAC aCGH | Probe signal intensity | 56 |
| nssv549202 | copy number loss | GM10470A | BAC aCGH | Probe signal intensity | 49 |
| nssv549203 | copy number loss | GM10471 | BAC aCGH | Probe signal intensity | 51 |
| nssv549204 | copy number loss | GM10493 | BAC aCGH | Probe signal intensity | 65 |
| nssv549205 | copy number loss | GM10496A | BAC aCGH | Probe signal intensity | 59 |
| nssv549206 | copy number gain | GM17059A | BAC aCGH | Probe signal intensity | 44 |
| nssv549207 | copy number loss | JK776 | BAC aCGH | Probe signal intensity | 50 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv549201 | Remapped | Perfect | NC_000021.9:g.(?_1 3383154)_(13535153 _?)del | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 13,383,154 | 13,535,153 |
| nssv549202 | Remapped | Perfect | NC_000021.9:g.(?_1 3383154)_(13535153 _?)del | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 13,383,154 | 13,535,153 |
| nssv549203 | Remapped | Perfect | NC_000021.9:g.(?_1 3383154)_(13535153 _?)del | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 13,383,154 | 13,535,153 |
| nssv549204 | Remapped | Perfect | NC_000021.9:g.(?_1 3383154)_(13535153 _?)del | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 13,383,154 | 13,535,153 |
| nssv549205 | Remapped | Perfect | NC_000021.9:g.(?_1 3383154)_(13535153 _?)del | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 13,383,154 | 13,535,153 |
| nssv549206 | Remapped | Perfect | NC_000021.9:g.(?_1 3383154)_(13535153 _?)dup | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 13,383,154 | 13,535,153 |
| nssv549207 | Remapped | Perfect | NC_000021.9:g.(?_1 3383154)_(13535153 _?)del | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 13,383,154 | 13,535,153 |
| nssv549201 | Remapped | Perfect | NC_000021.8:g.(?_1 4755475)_(14907474 _?)del | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 14,755,475 | 14,907,474 |
| nssv549202 | Remapped | Perfect | NC_000021.8:g.(?_1 4755475)_(14907474 _?)del | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 14,755,475 | 14,907,474 |
| nssv549203 | Remapped | Perfect | NC_000021.8:g.(?_1 4755475)_(14907474 _?)del | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 14,755,475 | 14,907,474 |
| nssv549204 | Remapped | Perfect | NC_000021.8:g.(?_1 4755475)_(14907474 _?)del | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 14,755,475 | 14,907,474 |
| nssv549205 | Remapped | Perfect | NC_000021.8:g.(?_1 4755475)_(14907474 _?)del | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 14,755,475 | 14,907,474 |
| nssv549206 | Remapped | Perfect | NC_000021.8:g.(?_1 4755475)_(14907474 _?)dup | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 14,755,475 | 14,907,474 |
| nssv549207 | Remapped | Perfect | NC_000021.8:g.(?_1 4755475)_(14907474 _?)del | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 14,755,475 | 14,907,474 |
| nssv549201 | Submitted genomic | NC_000021.6:g.(?_1 3677346)_(13829345 _?)del | NCBI34 (hg16) | NC_000021.6 | Chr21 | 13,677,346 | 13,829,345 | ||
| nssv549202 | Submitted genomic | NC_000021.6:g.(?_1 3677346)_(13829345 _?)del | NCBI34 (hg16) | NC_000021.6 | Chr21 | 13,677,346 | 13,829,345 | ||
| nssv549203 | Submitted genomic | NC_000021.6:g.(?_1 3677346)_(13829345 _?)del | NCBI34 (hg16) | NC_000021.6 | Chr21 | 13,677,346 | 13,829,345 | ||
| nssv549204 | Submitted genomic | NC_000021.6:g.(?_1 3677346)_(13829345 _?)del | NCBI34 (hg16) | NC_000021.6 | Chr21 | 13,677,346 | 13,829,345 | ||
| nssv549205 | Submitted genomic | NC_000021.6:g.(?_1 3677346)_(13829345 _?)del | NCBI34 (hg16) | NC_000021.6 | Chr21 | 13,677,346 | 13,829,345 | ||
| nssv549206 | Submitted genomic | NC_000021.6:g.(?_1 3677346)_(13829345 _?)dup | NCBI34 (hg16) | NC_000021.6 | Chr21 | 13,677,346 | 13,829,345 | ||
| nssv549207 | Submitted genomic | NC_000021.6:g.(?_1 3677346)_(13829345 _?)del | NCBI34 (hg16) | NC_000021.6 | Chr21 | 13,677,346 | 13,829,345 |