nsv5036990
- Organism: Homo sapiens
- Study:nstd200 (Abel et al. 2020)
- Variant Type:inversion
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:3,500,330
- Publication(s):Abel et al. 2020
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: 12290 SVs from 122 studies. See in: genome view
Overlapping variant regions from other studies: 12200 SVs from 122 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5036990 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000021.9 | Chr21 | 21,590,025 (-1) | 25,090,354 | ||
| nsv5036990 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000021.8 | Chr21 | 22,962,346 (-1) | 26,462,667 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16593846 | inversion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16593846 | Submitted genomic | NC_000021.9:g.(215 90024_?)_25090354i nv | GRCh38 (hg38) | NC_000021.9 | Chr21 | 21,590,025 (-1) | 25,090,354 | ||
| nssv16593846 | Remapped | Perfect | NC_000021.8:g.(229 62345_?)_26462667i nv | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 22,962,346 (-1) | 26,462,667 |
No validation data were submitted for this variant
No clinical assertion data were submitted for this variant
Genotype Information
| Variant Call ID | Allele Frequency (AF) | Allele Count (AC) | Allele Number (AN) |
|---|---|---|---|
| nssv16593846 | <0.001 | 1 | 29246 |