nsv435969
- 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:18,130
- 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: 453 SVs from 37 studies. See in: genome view
Overlapping variant regions from other studies: 460 SVs from 40 studies. See in: genome view
Overlapping variant regions from other studies: 18 SVs from 13 studies. See in: genome view
Overlapping variant regions from other studies: 199 SVs from 13 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 Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|
| nsv435969 | Remapped | Pass | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 46,952,983 | 46,971,112 | - |
| nsv435969 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000023.10 | ChrX | 46,810,041 | - | 46,829,126 |
| nsv435969 | Remapped | Pass | GRCh37.p13 | PATCHES | Second Pass | NW_004166866.1 | ChrX|NW_00 4166866.1 | 202,544 | 220,673 | - |
| nsv435969 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000023.9 | ChrX | 46,694,985 | - | 46,714,070 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv465800 | 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 Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|
| nssv465800 | Remapped | Pass | NC_000023.11:g.(46 952983_?)_(4697111 2_?)inv | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 46,952,983 | 46,971,112 | - |
| nssv465800 | Remapped | Pass | NW_004166866.1:g.( 202544_?)_(220673_ ?)inv | GRCh37.p13 | Second Pass | NW_004166866.1 | ChrX|NW_00 4166866.1 | 202,544 | 220,673 | - |
| nssv465800 | Remapped | Perfect | NC_000023.10:g.(46 810041_?)_(?_46829 126)inv | GRCh37.p13 | First Pass | NC_000023.10 | ChrX | 46,810,041 | - | 46,829,126 |
| nssv465800 | Submitted genomic | NC_000023.9:g.(466 94985_?)_(?_467140 70)inv | NCBI36 (hg18) | NC_000023.9 | ChrX | 46,694,985 | - | 46,714,070 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| nssv465800 | 4 | SAMN00000376 | PCR | Manual observation | Pass |