nsv510991
- Organism: Homo sapiens
- Study:nstd49 (Teague et al. 2010)
- Variant Type:complex substitution
- Method Type:Optical mapping
- Submitted on:NCBI35 (hg17)
- Variant Calls:6
- Validation:Not tested
- Clinical Assertions: No
- Region Size:2,001,971
- Publication(s):Teague et al. 2010
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: 8186 SVs from 130 studies. See in: genome view
Overlapping variant regions from other studies: 7265 SVs from 129 studies. See in: genome view
Overlapping variant regions from other studies: 4808 SVs from 75 studies. See in: genome view
Overlapping variant regions from other studies: 630 SVs from 18 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nsv510991 | Remapped | Pass | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 45,921,609 | - | 47,923,579 | - |
| nsv510991 | Remapped | Pass | GRCh37.p13 | Primary Assembly | First Pass | NC_000010.10 | Chr10 | - | 46,476,965 | - | 49,086,489 |
| nsv510991 | Remapped | Pass | GRCh37.p13 | PATCHES | First Pass | NW_003871068.1 | Chr10|NW_0 03871068.1 | 192,724 | - | 2,010,264 | - |
| nsv510991 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000010.8 | Chr10 | 45,737,063 | - | - | 48,706,495 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv622404 | complex substitution | GM10860 | Optical mapping | Optical mapping | 1,998 |
| nssv621621 | inversion | GM15510 | Optical mapping | Optical mapping | 1,740 |
| nssv624341 | inversion | GM18994 | Optical mapping | Optical mapping | 1,936 |
| nssv621624 | complex substitution | GM15510 | Optical mapping | Optical mapping | 1,740 |
| nssv622407 | inversion | GM10860 | Optical mapping | Optical mapping | 1,998 |
| nssv624342 | inversion | GM18994 | Optical mapping | Optical mapping | 1,936 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nssv622404 | Remapped | Good | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 45,921,609 | - | 47,923,579 | - | |
| nssv621621 | Remapped | Pass | NC_000010.11:g.(?_ 46490273)_(4792357 9_?)inv194536 | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | - | 46,490,273 | 47,923,579 | - |
| nssv624341 | Remapped | Pass | NC_000010.11:g.(?_ 46490273)_(4792357 9_?)inv | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | - | 46,490,273 | 47,923,579 | - |
| nssv621624 | Remapped | Pass | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | - | 46,737,091 | - | 47,631,410 | |
| nssv622407 | Remapped | Pass | NC_000010.11:g.(?_ 46737091)_(?_47631 410)inv | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | - | 46,737,091 | - | 47,631,410 |
| nssv624342 | Remapped | Pass | NC_000010.11:g.(?_ 46737091)_(?_47631 410)inv | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | - | 46,737,091 | - | 47,631,410 |
| nssv622404 | Remapped | Pass | GRCh37.p13 | First Pass | NW_003871068.1 | Chr10|NW_0 03871068.1 | 192,724 | - | 2,010,264 | - | |
| nssv621624 | Remapped | Pass | GRCh37.p13 | First Pass | NW_003871068.1 | Chr10|NW_0 03871068.1 | - | 1,008,206 | - | 1,902,525 | |
| nssv622407 | Remapped | Pass | NW_003871068.1:g.( ?_1008206)_(?_1902 525)inv | GRCh37.p13 | First Pass | NW_003871068.1 | Chr10|NW_0 03871068.1 | - | 1,008,206 | - | 1,902,525 |
| nssv624342 | Remapped | Pass | NW_003871068.1:g.( ?_1008206)_(?_1902 525)inv | GRCh37.p13 | First Pass | NW_003871068.1 | Chr10|NW_0 03871068.1 | - | 1,008,206 | - | 1,902,525 |
| nssv622404 | Remapped | Pass | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | - | 46,476,965 | 48,055,707 | - | |
| nssv624341 | Remapped | Pass | NC_000010.10:g.(46 480237_?)_(4732367 4_?)inv | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 46,480,237 | - | 47,323,674 | - |
| nssv621621 | Remapped | Pass | NC_000010.10:g.(46 481865_?)_(4732367 4_?)inv194536 | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 46,481,865 | - | 47,323,674 | - |
| nssv621624 | Remapped | Pass | GRCh37.p13 | Second Pass | NC_000010.10 | Chr10 | 48,107,952 | - | 49,002,271 | - | |
| nssv622407 | Remapped | Pass | NC_000010.10:g.(48 107952_?)_(4900227 1_?)inv | GRCh37.p13 | Second Pass | NC_000010.10 | Chr10 | 48,107,952 | - | 49,002,271 | - |
| nssv624342 | Remapped | Pass | NC_000010.10:g.(48 107952_?)_(4900227 1_?)inv | GRCh37.p13 | Second Pass | NC_000010.10 | Chr10 | 48,107,952 | - | 49,002,271 | - |
| nssv622404 | Submitted genomic | NCBI35 (hg17) | NC_000010.8 | Chr10 | 45,737,063 | - | - | 47,727,958 | |||
| nssv624341 | Submitted genomic | NC_000010.8:g.(459 00243_?)_(?_468473 48)inv | NCBI35 (hg17) | NC_000010.8 | Chr10 | 45,900,243 | - | - | 46,847,348 | ||
| nssv621621 | Submitted genomic | NC_000010.8:g.(459 01871_?)_(?_468473 48)inv194536 | NCBI35 (hg17) | NC_000010.8 | Chr10 | 45,901,871 | - | - | 46,847,348 | ||
| nssv621624 | Submitted genomic | NCBI35 (hg17) | NC_000010.8 | Chr10 | 47,727,958 | - | - | 48,706,495 | |||
| nssv622407 | Submitted genomic | NC_000010.8:g.(477 27958_?)_(?_487064 95)inv | NCBI35 (hg17) | NC_000010.8 | Chr10 | 47,727,958 | - | - | 48,706,495 | ||
| nssv624342 | Submitted genomic | NC_000010.8:g.(477 27958_?)_(?_487064 95)inv | NCBI35 (hg17) | NC_000010.8 | Chr10 | 47,727,958 | - | - | 48,706,495 |