nsv5375566
- Organism: Homo sapiens
- Study:nstd200 (Abel et al. 2020)
- Variant Type:translocation
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1
- 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: 346 SVs from 39 studies. See in: genome view
Overlapping variant regions from other studies: 351 SVs from 41 studies. See in: genome view
Overlapping variant regions from other studies: 346 SVs from 39 studies. See in: genome view
Overlapping variant regions from other studies: 351 SVs from 41 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop | strand |
|---|---|---|---|---|---|---|---|---|---|---|
| nsv5375566 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000021.9 | Chr21 | 43,812,978 | 43,812,978 | - | ||
| nsv5375566 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000021.9 | Chr21 | 43,835,116 | 43,835,116 | - | ||
| nsv5375566 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000021.8 | Chr21 | 45,232,859 | 45,232,859 | - |
| nsv5375566 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000021.8 | Chr21 | 45,254,997 | 45,254,997 | - |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16593901 | intrachromosomal translocation | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop | strand |
|---|---|---|---|---|---|---|---|---|---|
| nssv16593901 | Submitted genomic | GRCh38 (hg38) | NC_000021.9 | Chr21 | 43,812,978 | 43,812,978 | - | ||
| nssv16593901 | Submitted genomic | GRCh38 (hg38) | NC_000021.9 | Chr21 | 43,835,116 | 43,835,116 | - | ||
| nssv16593901 | Remapped | Perfect | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 45,232,859 | 45,232,859 | - |
| nssv16593901 | Remapped | Perfect | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 45,254,997 | 45,254,997 | - |
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) |
|---|---|---|---|
| nssv16593901 | 0.006 | 180 | 29246 |