nsv5648221
- Organism: Homo sapiens
- Study:nstd207 (Ebert et al. 2021)
- Variant Type:insertion
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:1
- 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: 122 SVs from 26 studies. See in: genome view
Overlapping variant regions from other studies: 10 SVs from 8 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5648221 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000019.10 | Chr19 | 41,803,704 | 41,803,704 | ||
| nsv5648221 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_004775434.1 | Chr19|NW_0 04775434.1 | 372,743 | 372,743 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv17105032 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv17105032 | Submitted genomic | NC_000019.10:g.418 03704_41803705ins1 18 | GRCh38 (hg38) | NC_000019.10 | Chr19 | 41,803,704 | 41,803,704 | ||
| nssv17105032 | Remapped | Perfect | NW_004775434.1:g.3 72743_372744ins118 | GRCh37.p13 | First Pass | NW_004775434.1 | Chr19|NW_0 04775434.1 | 372,743 | 372,743 |