nsv5609688
- Organism: Homo sapiens
- Study:nstd207 (Ebert et al. 2021)
- Variant Type:insertion
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1
- Publication(s):Ebert et al. 2021
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: 96 SVs from 24 studies. See in: genome view
Overlapping variant regions from other studies: 96 SVs from 24 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5609688 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000002.12 | Chr2 | 85,308,385 | 85,308,385 | ||
| nsv5609688 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000002.11 | Chr2 | 85,535,508 | 85,535,508 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv17115613 | insertion | SAMN00001694 | Sequencing | Sequence alignment | 8,610 |
| nssv17115614 | insertion | SAMN00006579 | Sequencing | Sequence alignment | 23,265 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17115613 | Submitted genomic | NC_000002.12:g.853 08385_85308386ins1 83 | GRCh38 (hg38) | NC_000002.12 | Chr2 | 85,308,385 | 85,308,385 | ||
| nssv17115614 | Submitted genomic | NC_000002.12:g.853 08385_85308386ins8 5 | GRCh38 (hg38) | NC_000002.12 | Chr2 | 85,308,385 | 85,308,385 | ||
| nssv17115613 | Remapped | Perfect | NC_000002.11:g.855 35508_85535509ins1 83 | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 85,535,508 | 85,535,508 |
| nssv17115614 | Remapped | Perfect | NC_000002.11:g.855 35508_85535509ins8 5 | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 85,535,508 | 85,535,508 |