nsv252
- Organism: Homo sapiens
- Study:nstd1 (Tuzun et al. 2005)
- Variant Type:insertion
- Method Type:Sequencing
- Submitted on:NCBI35 (hg17)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:31,488
- 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: 552 SVs from 68 studies. See in: genome view
Overlapping variant regions from other studies: 485 SVs from 57 studies. See in: genome view
Overlapping variant regions from other studies: 264 SVs from 38 studies. See in: genome view
Overlapping variant regions from other studies: 27 SVs from 9 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 |
|---|---|---|---|---|---|---|---|---|---|---|
| nsv252 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 18,267 | - | 49,754 |
| nsv252 | Remapped | Pass | GRCh37.p13 | Primary Assembly | First Pass | NC_000004.11 | Chr4 | - | 25,701 | 49,648 |
| nsv252 | Remapped | Pass | GRCh37.p13 | PATCHES | Second Pass | NW_004775427.1 | Chr4|NW_00 4775427.1 | - | 15,701 | 39,754 |
| nsv252 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000004.9 | Chr4 | 8,267 | - | 39,648 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv252 | 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 | Inner Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|
| nssv252 | Remapped | Good | NC_000004.12:g.(18 267_?)_(?_49754)in s8616 | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 18,267 | - | 49,754 |
| nssv252 | Remapped | Pass | NW_004775427.1:g.( ?_15701)_(?_39754) ins8616 | GRCh37.p13 | Second Pass | NW_004775427.1 | Chr4|NW_00 4775427.1 | - | 15,701 | 39,754 |
| nssv252 | Remapped | Pass | NC_000004.11:g.(?_ 25701)_(?_49648)in s8616 | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | - | 25,701 | 49,648 |
| nssv252 | Submitted genomic | NC_000004.9:g.(826 7_?)_(?_39648)ins8 616 | NCBI35 (hg17) | NC_000004.9 | Chr4 | 8,267 | - | 39,648 |