nsv435949
- Organism: Homo sapiens
- Study:nstd16 (Korbel et al. 2007)
- Variant Type:inversion
- Method Type:Sequencing
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Yes
- Clinical Assertions: No
- Region Size:34,286
- Publication(s):Korbel et al. 2007
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: 2089 SVs from 95 studies. See in: genome view
Overlapping variant regions from other studies: 1793 SVs from 91 studies. See in: genome view
Overlapping variant regions from other studies: 958 SVs from 44 studies. See in: genome view
Overlapping variant regions from other studies: 1071 SVs from 31 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 | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|
| nsv435949 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | - | 46,490,273 | 46,524,558 |
| nsv435949 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000010.10 | Chr10 | 47,022,525 | - | 47,057,698 |
| nsv435949 | Remapped | Good | GRCh37.p13 | PATCHES | Second Pass | NW_003871068.1 | Chr10|NW_0 03871068.1 | - | 761,396 | 795,673 |
| nsv435949 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000010.9 | Chr10 | 46,442,531 | - | 46,477,704 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv466594 | inversion | SAMN00000376 | Sequencing | Paired-end mapping | 468 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|
| nssv466594 | Remapped | Good | NC_000010.11:g.(?_ 46490273)_(?_46524 558)inv | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | - | 46,490,273 | 46,524,558 |
| nssv466594 | Remapped | Good | NW_003871068.1:g.( ?_761396)_(?_79567 3)inv | GRCh37.p13 | Second Pass | NW_003871068.1 | Chr10|NW_0 03871068.1 | - | 761,396 | 795,673 |
| nssv466594 | Remapped | Perfect | NC_000010.10:g.(47 022525_?)_(?_47057 698)inv | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 47,022,525 | - | 47,057,698 |
| nssv466594 | Submitted genomic | NC_000010.9:g.(464 42531_?)_(?_464777 04)inv | NCBI36 (hg18) | NC_000010.9 | Chr10 | 46,442,531 | - | 46,477,704 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| nssv466594 | 4 | SAMN00000376 | PCR | Manual observation | Pass |