nsv242
- 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:21,470
- 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: 139 SVs from 40 studies. See in: genome view
Overlapping variant regions from other studies: 19 SVs from 12 studies. See in: genome view
Overlapping variant regions from other studies: 139 SVs from 40 studies. See in: genome view
Overlapping variant regions from other studies: 4 SVs from 3 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv242 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 112,155,291 | 112,167,272 |
| nsv242 | Remapped | Pass | GRCh38.p12 | PATCHES | Second Pass | NW_019805492.1 | Chr3|NW_01 9805492.1 | 38,578 | 60,047 |
| nsv242 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000003.11 | Chr3 | 111,874,138 | 111,886,119 |
| nsv242 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000003.9 | Chr3 | 113,356,828 | 113,368,809 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv242 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv242 | Remapped | Pass | NW_019805492.1:g.( 38578_?)_(?_60047) ins10152 | GRCh38.p12 | Second Pass | NW_019805492.1 | Chr3|NW_01 9805492.1 | 38,578 | 60,047 |
| nssv242 | Remapped | Perfect | NC_000003.12:g.(11 2155291_?)_(?_1121 67272)ins10152 | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 112,155,291 | 112,167,272 |
| nssv242 | Remapped | Perfect | NC_000003.11:g.(11 1874138_?)_(?_1118 86119)ins10152 | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 111,874,138 | 111,886,119 |
| nssv242 | Submitted genomic | NC_000003.9:g.(113 356828_?)_(?_11336 8809)ins10152 | NCBI35 (hg17) | NC_000003.9 | Chr3 | 113,356,828 | 113,368,809 |