nsv5380647
- 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: 155 SVs from 32 studies. See in: genome view
Overlapping variant regions from other studies: 165 SVs from 34 studies. See in: genome view
Overlapping variant regions from other studies: 155 SVs from 32 studies. See in: genome view
Overlapping variant regions from other studies: 165 SVs from 34 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 |
|---|---|---|---|---|---|---|---|---|---|---|
| nsv5380647 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000002.12 | Chr2 | 126,690,265 | 126,690,265 | + | ||
| nsv5380647 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000002.12 | Chr2 | 126,693,750 | 126,693,750 | + | ||
| nsv5380647 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000002.11 | Chr2 | 127,447,841 | 127,447,841 | + |
| nsv5380647 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000002.11 | Chr2 | 127,451,326 | 127,451,326 | + |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16433159 | intrachromosomal translocation | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop | strand |
|---|---|---|---|---|---|---|---|---|---|
| nssv16433159 | Submitted genomic | GRCh38 (hg38) | NC_000002.12 | Chr2 | 126,690,265 | 126,690,265 | + | ||
| nssv16433159 | Submitted genomic | GRCh38 (hg38) | NC_000002.12 | Chr2 | 126,693,750 | 126,693,750 | + | ||
| nssv16433159 | Remapped | Perfect | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 127,447,841 | 127,447,841 | + |
| nssv16433159 | Remapped | Perfect | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 127,451,326 | 127,451,326 | + |
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) |
|---|---|---|---|
| nssv16433159 | <0.001 | 16 | 29246 |