nsv5636545
- 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: 261 SVs from 51 studies. See in: genome view
Overlapping variant regions from other studies: 261 SVs from 51 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv5636545 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000007.14 | Chr7 | 2,377,913 | 2,377,913 | ||
nsv5636545 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000007.13 | Chr7 | 2,417,548 | 2,417,548 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv17142056 | insertion | SAMN00006466 | Sequencing | Sequence alignment | 4,625 |
nssv17154082 | insertion | SAMN00006466 | Sequencing | Sequence alignment | 4,625 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv17142056 | Submitted genomic | NC_000007.14:g.237 7913_2377914ins186 0 | GRCh38 (hg38) | NC_000007.14 | Chr7 | 2,377,913 | 2,377,913 | ||
nssv17154082 | Submitted genomic | NC_000007.14:g.237 7913_2377914ins68 | GRCh38 (hg38) | NC_000007.14 | Chr7 | 2,377,913 | 2,377,913 | ||
nssv17142056 | Remapped | Perfect | NC_000007.13:g.241 7548_2417549ins186 0 | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 2,417,548 | 2,417,548 |
nssv17154082 | Remapped | Perfect | NC_000007.13:g.241 7548_2417549ins68 | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 2,417,548 | 2,417,548 |