nsv3369641
- Organism: Homo sapiens
- Study:nstd162 (Audano et al. 2019)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh38 (hg38)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:81
- Publication(s):Audano 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: 356 SVs from 42 studies. See in: genome view
Overlapping variant regions from other studies: 356 SVs from 42 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3369641 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000002.12 | Chr2 | 241,457,352 | 241,457,432 | ||
| nsv3369641 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000002.11 | Chr2 | 242,396,767 | 242,396,847 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14637034 | deletion | SAMN05603729 | Sequencing | de novo and local sequence assembly | 24,108 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14637034 | Submitted genomic | NC_000002.12:g.241 457352_241457432de l | GRCh38 (hg38) | NC_000002.12 | Chr2 | 241,457,352 | 241,457,432 | ||
| nssv14637034 | Remapped | Perfect | NC_000002.11:g.242 396767_242396847de lNC_000002.11:g.24 2396767_242396847d el | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 242,396,767 | 242,396,847 |