nsv5345351
- Organism: Homo sapiens
- Study:nstd200 (Abel et al. 2020)
- Variant Type:translocation
- Method Type:Sequencing
- Submitted on:GRCh37
- 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: 296 SVs from 41 studies. See in: genome view
Overlapping variant regions from other studies: 294 SVs from 40 studies. See in: genome view
Overlapping variant regions from other studies: 296 SVs from 41 studies. See in: genome view
Overlapping variant regions from other studies: 294 SVs from 40 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 |
|---|---|---|---|---|---|---|---|---|---|---|
| nsv5345351 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000020.11 | Chr20 | 63,491,980 | 63,491,980 | - |
| nsv5345351 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000020.11 | Chr20 | 63,492,985 | 63,492,985 | - |
| nsv5345351 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000020.10 | Chr20 | 62,123,333 | 62,123,333 | - | ||
| nsv5345351 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000020.10 | Chr20 | 62,124,338 | 62,124,338 | - |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16408270 | intrachromosomal translocation | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop | strand |
|---|---|---|---|---|---|---|---|---|---|
| nssv16408270 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 63,491,980 | 63,491,980 | - |
| nssv16408270 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 63,492,985 | 63,492,985 | - |
| nssv16408270 | Submitted genomic | GRCh37 (hg19) | NC_000020.10 | Chr20 | 62,123,333 | 62,123,333 | - | ||
| nssv16408270 | Submitted genomic | GRCh37 (hg19) | NC_000020.10 | Chr20 | 62,124,338 | 62,124,338 | - |
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) |
|---|---|---|---|
| nssv16408270 | 0.996 | 16773 | 16834 |