nsv5365854
- 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: 125 SVs from 27 studies. See in: genome view
Overlapping variant regions from other studies: 123 SVs from 27 studies. See in: genome view
Overlapping variant regions from other studies: 13 SVs from 9 studies. See in: genome view
Overlapping variant regions from other studies: 8 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 |
|---|---|---|---|---|---|---|---|---|---|---|
| nsv5365854 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000019.10 | Chr19 | 41,803,755 | 41,803,755 | - | ||
| nsv5365854 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000019.10 | Chr19 | 41,807,383 | 41,807,383 | - | ||
| nsv5365854 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_004775434.1 | Chr19|NW_0 04775434.1 | 372,794 | 372,794 | - |
| nsv5365854 | 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 |
|---|---|---|---|
| nssv16591585 | intrachromosomal translocation | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop | strand |
|---|---|---|---|---|---|---|---|---|---|
| nssv16591585 | Submitted genomic | GRCh38 (hg38) | NC_000019.10 | Chr19 | 41,803,755 | 41,803,755 | - | ||
| nssv16591585 | Submitted genomic | GRCh38 (hg38) | NC_000019.10 | Chr19 | 41,807,383 | 41,807,383 | - | ||
| nssv16591585 | Remapped | Perfect | GRCh37.p13 | First Pass | NW_004775434.1 | Chr19|NW_0 04775434.1 | 372,794 | 372,794 | - |
| nssv16591585 | 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
Genotype Information
| Variant Call ID | Allele Frequency (AF) | Allele Count (AC) | Allele Number (AN) |
|---|---|---|---|
| nssv16591585 | 0.406 | 11883 | 29246 |