nsv5985050
- Organism: Homo sapiens
- Study:nstd212 (Wu et al. 2021)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:7,139
- Publication(s):Wu 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: 135 SVs from 27 studies. See in: genome view
Overlapping variant regions from other studies: 135 SVs from 27 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5985050 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000001.11 | Chr1 | 93,876,138 | 93,883,276 | ||
| nsv5985050 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000001.10 | Chr1 | 94,341,694 | 94,348,832 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv17521488 | duplication | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17521488 | Submitted genomic | NC_000001.11:g.938 76138_93883276dup | GRCh38 (hg38) | NC_000001.11 | Chr1 | 93,876,138 | 93,883,276 | ||
| nssv17521488 | Remapped | Perfect | NC_000001.10:g.943 41694_94348832dup | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 94,341,694 | 94,348,832 |