nsv513353
- Organism: Homo sapiens
- Study:nstd50 (Arlt et al. 2011)
- Variant Type:insertion
- Method Type:Sequencing
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1,833
- Publication(s):Arlt et al. 2011
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: 173 SVs from 35 studies. See in: genome view
Overlapping variant regions from other studies: 170 SVs from 33 studies. See in: genome view
Overlapping variant regions from other studies: 9 SVs from 6 studies. See in: genome view
Overlapping variant regions from other studies: 72 SVs from 11 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv513353 | Remapped | Pass | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 6,999,597 | 7,001,429 |
| nsv513353 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000012.11 | Chr12 | 7,107,689 | 7,108,734 |
| nsv513353 | Remapped | Pass | GRCh37.p13 | PATCHES | Second Pass | NW_003871083.2 | Chr12|NW_0 03871083.2 | 201,180 | 203,012 |
| nsv513353 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000012.10 | Chr12 | 6,977,950 | 6,978,995 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv625746 | insertion | 1 | Sequencing | Paired-end mapping | 2,637 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv625746 | Remapped | Pass | NC_000012.12:g.(69 99597_?)_(?_700142 9)ins1018 | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 6,999,597 | 7,001,429 |
| nssv625746 | Remapped | Pass | NW_003871083.2:g.( 201180_?)_(?_20301 2)ins1018 | GRCh37.p13 | Second Pass | NW_003871083.2 | Chr12|NW_0 03871083.2 | 201,180 | 203,012 |
| nssv625746 | Remapped | Perfect | NC_000012.11:g.(71 07689_?)_(?_710873 4)ins1018 | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 7,107,689 | 7,108,734 |
| nssv625746 | Submitted genomic | NC_000012.10:g.(69 77950_?)_(?_697899 5)ins1018 | NCBI36 (hg18) | NC_000012.10 | Chr12 | 6,977,950 | 6,978,995 |