nsv165
- Organism: Homo sapiens
- Study:nstd1 (Tuzun et al. 2005)
- Variant Type:insertion
- Method Type:Sequencing
- Submitted on:NCBI35 (hg17)
- Variant Calls:1
- Validation:Yes
- Clinical Assertions: No
- Region Size:25,785
- Publication(s):Tuzun et al. 2005
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 438 SVs from 65 studies. See in: genome view
Overlapping variant regions from other studies: 369 SVs from 65 studies. See in: genome view
Overlapping variant regions from other studies: 213 SVs from 31 studies. See in: genome view
Overlapping variant regions from other studies: 6 SVs from 4 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv165 | Remapped | Pass | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 81,412,148 | 81,437,932 |
| nsv165 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | Second Pass | NC_000017.10 | Chr17 | 79,385,948 | 79,404,958 |
| nsv165 | Remapped | Pass | GRCh37.p13 | PATCHES | First Pass | NW_003871087.1 | Chr17|NW_0 03871087.1 | 66,786 | 92,570 |
| nsv165 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000017.9 | Chr17 | 77,000,543 | 77,019,553 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv165 | insertion | SAMN00000376 | Sequencing | Paired-end mapping | 297 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv165 | Remapped | Pass | NC_000017.11:g.(81 412148_?)_(?_81437 932)ins10212 | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 81,412,148 | 81,437,932 |
| nssv165 | Remapped | Pass | NW_003871087.1:g.( 66786_?)_(?_92570) ins10212 | GRCh37.p13 | First Pass | NW_003871087.1 | Chr17|NW_0 03871087.1 | 66,786 | 92,570 |
| nssv165 | Remapped | Perfect | NC_000017.10:g.(79 385948_?)_(?_79404 958)ins10212 | GRCh37.p13 | Second Pass | NC_000017.10 | Chr17 | 79,385,948 | 79,404,958 |
| nssv165 | Submitted genomic | NC_000017.9:g.(770 00543_?)_(?_770195 53)ins10212 | NCBI35 (hg17) | NC_000017.9 | Chr17 | 77,000,543 | 77,019,553 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| nssv165 | 2 | SAMN00000376 | Sequencing | Sequence alignment | Pass |