nsv1146342
- Organism: Homo sapiens
- Study:nstd107 (John et al. 2014)
- Variant Type:insertion
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:113
- Publication(s):John et al. 2014
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: 589 SVs from 63 studies. See in: genome view
Overlapping variant regions from other studies: 300 SVs from 44 studies. See in: genome view
Overlapping variant regions from other studies: 568 SVs from 62 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv1146342 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000014.9 | Chr14 | 105,582,805 | 105,582,917 |
| nsv1146342 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187600.1 | Chr14|NT_1 87600.1 | 51,161 | 51,273 |
| nsv1146342 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000014.8 | Chr14 | 106,049,142 | 106,049,254 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv3999548 | insertion | KWB1 | Sequencing | Read depth and paired-end mapping | 8,440 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv3999548 | Remapped | Perfect | NT_187600.1:g.(511 61_?)_(?_51273)ins ? | GRCh38.p12 | Second Pass | NT_187600.1 | Chr14|NT_1 87600.1 | 51,161 | 51,273 |
| nssv3999548 | Remapped | Perfect | NC_000014.9:g.(105 582805_?)_(?_10558 2917)ins? | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 105,582,805 | 105,582,917 |
| nssv3999548 | Submitted genomic | NC_000014.8:g.(106 049142_?)_(?_10604 9254)ins(0_?) | GRCh37 (hg19) | NC_000014.8 | Chr14 | 106,049,142 | 106,049,254 |