nsv5376229
- 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: 410 SVs from 32 studies. See in: genome view
Overlapping variant regions from other studies: 397 SVs from 32 studies. See in: genome view
Overlapping variant regions from other studies: 410 SVs from 32 studies. See in: genome view
Overlapping variant regions from other studies: 392 SVs from 31 studies. See in: genome view
Overlapping variant regions from other studies: 22 SVs from 9 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 |
|---|---|---|---|---|---|---|---|---|---|---|
| nsv5376229 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000023.11 | ChrX | 52,862,974 | 52,862,974 | + | ||
| nsv5376229 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000023.11 | ChrX | 55,652,520 | 55,652,520 | + | ||
| nsv5376229 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | Second Pass | NC_000023.10 | ChrX | 52,892,003 | 52,892,003 | + |
| nsv5376229 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000023.10 | ChrX | 55,678,953 | 55,678,953 | + |
| nsv5376229 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_004070877.1 | ChrX|NW_00 4070877.1 | 2,576,089 | 2,576,089 | + |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16588305 | intrachromosomal translocation | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop | strand |
|---|---|---|---|---|---|---|---|---|---|
| nssv16588305 | Submitted genomic | GRCh38 (hg38) | NC_000023.11 | ChrX | 52,862,974 | 52,862,974 | + | ||
| nssv16588305 | Submitted genomic | GRCh38 (hg38) | NC_000023.11 | ChrX | 55,652,520 | 55,652,520 | + | ||
| nssv16588305 | Remapped | Perfect | GRCh37.p13 | First Pass | NW_004070877.1 | ChrX|NW_00 4070877.1 | 2,576,089 | 2,576,089 | + |
| nssv16588305 | Remapped | Perfect | GRCh37.p13 | Second Pass | NC_000023.10 | ChrX | 52,892,003 | 52,892,003 | + |
| nssv16588305 | Remapped | Perfect | GRCh37.p13 | First Pass | NC_000023.10 | ChrX | 55,678,953 | 55,678,953 | + |
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) |
|---|---|---|---|
| nssv16588305 | 0.448 | 13113 | 29246 |