nsv5327720
- Organism: Homo sapiens
- Study:nstd204 (Chen et al. 2021)
- Variant Type:translocation
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1
- Publication(s):Chen 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: 126 SVs from 27 studies. See in: genome view
Overlapping variant regions from other studies: 124 SVs from 27 studies. See in: genome view
Overlapping variant regions from other studies: 14 SVs from 9 studies. See in: genome view
Overlapping variant regions from other studies: 9 SVs from 6 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 |
|---|---|---|---|---|---|---|---|---|---|---|
| nsv5327720 | Submitted genomic | GRCh38.p13 | Primary Assembly | NC_000019.10 | Chr19 | 41,803,755 | 41,803,755 | - | ||
| nsv5327720 | Submitted genomic | GRCh38.p13 | Primary Assembly | NC_000019.10 | Chr19 | 41,807,383 | 41,807,383 | - | ||
| nsv5327720 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_004775434.1 | Chr19|NW_0 04775434.1 | 372,794 | 372,794 | - |
| nsv5327720 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_004775434.1 | Chr19|NW_0 04775434.1 | 376,422 | 376,422 | - |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16739139 | intrachromosomal translocation | Sequencing | Split read and paired-end mapping |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop | strand |
|---|---|---|---|---|---|---|---|---|---|
| nssv16739139 | Submitted genomic | GRCh38.p13 | NC_000019.10 | Chr19 | 41,803,755 | 41,803,755 | - | ||
| nssv16739139 | Submitted genomic | GRCh38.p13 | NC_000019.10 | Chr19 | 41,807,383 | 41,807,383 | - | ||
| nssv16739139 | Remapped | Perfect | GRCh37.p13 | First Pass | NW_004775434.1 | Chr19|NW_0 04775434.1 | 372,794 | 372,794 | - |
| nssv16739139 | Remapped | Perfect | GRCh37.p13 | First Pass | NW_004775434.1 | Chr19|NW_0 04775434.1 | 376,422 | 376,422 | - |
No validation data were submitted for this variant
No clinical assertion data were submitted for this variant
Complete genotype and/or allele frequency data for this study can be found on dbVar's FTP site.
Genotype Information
| Variant Call ID | Allele Frequency (AF) |
|---|---|
| nssv16739139 | 0.543 |