nsv511104
- Organism: Homo sapiens
- Study:nstd49 (Teague et al. 2010)
- Variant Type:inversion
- Method Type:Optical mapping
- Submitted on:NCBI35 (hg17)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:43,209
- 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: 716 SVs from 58 studies. See in: genome view
Overlapping variant regions from other studies: 428 SVs from 36 studies. See in: genome view
Overlapping variant regions from other studies: 716 SVs from 58 studies. See in: genome view
Overlapping variant regions from other studies: 11 SVs from 8 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv511104 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 70,041,285 | 70,084,493 |
| nsv511104 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_2 | Second Pass | NT_187651.1 | Chr5|NT_18 7651.1 | 266,632 | 309,831 |
| nsv511104 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000005.9 | Chr5 | 69,337,112 | 69,380,320 |
| nsv511104 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000005.8 | Chr5 | 69,372,868 | 69,416,076 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv622368 | inversion | GM10860 | Optical mapping | Optical mapping | 1,998 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv622368 | Remapped | Good | NT_187651.1:g.(266 632_?)_(?_309831)i nv | GRCh38.p12 | Second Pass | NT_187651.1 | Chr5|NT_18 7651.1 | 266,632 | 309,831 |
| nssv622368 | Remapped | Perfect | NC_000005.10:g.(70 041285_?)_(?_70084 493)inv | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 70,041,285 | 70,084,493 |
| nssv622368 | Remapped | Perfect | NC_000005.9:g.(693 37112_?)_(?_693803 20)inv | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 69,337,112 | 69,380,320 |
| nssv622368 | Submitted genomic | NC_000005.8:g.(693 72868_?)_(?_694160 76)inv | NCBI35 (hg17) | NC_000005.8 | Chr5 | 69,372,868 | 69,416,076 |