nsv3955127
- Organism: Homo sapiens
- Study:nstd167 (Wenger et al. 2019)
- Variant Type:insertion
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1
- Publication(s):Wenger et al. 2019
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: 172 SVs from 11 studies. See in: genome view
Overlapping variant regions from other studies: 38 SVs from 5 studies. See in: genome view
Overlapping variant regions from other studies: 103 SVs from 6 studies. See in: genome view
Overlapping variant regions from other studies: 172 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 | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3955127 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000015.10 | Chr15 | 29,131,600 | 29,131,600 |
| nsv3955127 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_2 | Second Pass | NT_187660.1 | Chr15|NT_1 87660.1 | 1,406,229 | 1,406,229 |
| nsv3955127 | Remapped | Perfect | GRCh38.p12 | PATCHES | Second Pass | NW_011332701.1 | Chr15|NW_0 11332701.1 | 1,293,745 | 1,293,745 |
| nsv3955127 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000015.9 | Chr15 | 29,423,803 | 29,423,803 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv15193765 | insertion | SAMN03283347 | Sequencing | de novo and local sequence assembly | Heterozygous | 30,634 |
| nssv15193766 | insertion | SAMN03283347 | Sequencing | de novo and local sequence assembly | Heterozygous | 30,634 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15193765 | Remapped | Perfect | NT_187660.1:g.1406 229_1406230ins1224 | GRCh38.p12 | Second Pass | NT_187660.1 | Chr15|NT_1 87660.1 | 1,406,229 | 1,406,229 |
| nssv15193766 | Remapped | Perfect | NT_187660.1:g.1406 229_1406230ins1383 | GRCh38.p12 | Second Pass | NT_187660.1 | Chr15|NT_1 87660.1 | 1,406,229 | 1,406,229 |
| nssv15193765 | Remapped | Perfect | NW_011332701.1:g.1 293745_1293746ins1 224 | GRCh38.p12 | Second Pass | NW_011332701.1 | Chr15|NW_0 11332701.1 | 1,293,745 | 1,293,745 |
| nssv15193766 | Remapped | Perfect | NW_011332701.1:g.1 293745_1293746ins1 383 | GRCh38.p12 | Second Pass | NW_011332701.1 | Chr15|NW_0 11332701.1 | 1,293,745 | 1,293,745 |
| nssv15193765 | Remapped | Perfect | NC_000015.10:g.291 31600_29131601ins1 224 | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 29,131,600 | 29,131,600 |
| nssv15193766 | Remapped | Perfect | NC_000015.10:g.291 31600_29131601ins1 383 | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 29,131,600 | 29,131,600 |
| nssv15193765 | Submitted genomic | NC_000015.9:g.2942 3803_29423804ins12 24 | GRCh37 (hg19) | NC_000015.9 | Chr15 | 29,423,803 | 29,423,803 | ||
| nssv15193766 | Submitted genomic | NC_000015.9:g.2942 3803_29423804ins13 83 | GRCh37 (hg19) | NC_000015.9 | Chr15 | 29,423,803 | 29,423,803 |