nsv5641962
- 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: 318 SVs from 38 studies. See in: genome view
Overlapping variant regions from other studies: 318 SVs from 38 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5641962 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000008.11 | Chr8 | 124,483,113 | 124,483,113 | ||
| nsv5641962 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000008.10 | Chr8 | 125,495,354 | 125,495,354 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv17149475 | insertion | SAMN00001694 | Sequencing | Sequence alignment | 8,610 |
| nssv17150330 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv17149475 | Submitted genomic | NC_000008.11:g.124 483113_124483114in s129 | GRCh38 (hg38) | NC_000008.11 | Chr8 | 124,483,113 | 124,483,113 | ||
| nssv17150330 | Submitted genomic | NC_000008.11:g.124 483113_124483114in s326 | GRCh38 (hg38) | NC_000008.11 | Chr8 | 124,483,113 | 124,483,113 | ||
| nssv17149475 | Remapped | Perfect | NC_000008.10:g.125 495354_125495355in s129 | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 125,495,354 | 125,495,354 |
| nssv17150330 | Remapped | Perfect | NC_000008.10:g.125 495354_125495355in s326 | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 125,495,354 | 125,495,354 |