nsv5415548
- Organism: Homo sapiens
- Study:nstd206 (Byrska-Bishop et al. 2022)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:272
- Publication(s):Byrska-Bishop et al. 2022
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: 278 SVs from 25 studies. See in: genome view
Overlapping variant regions from other studies: 277 SVs from 24 studies. See in: genome view
Overlapping variant regions from other studies: 10 SVs from 4 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5415548 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000023.11 | ChrX | 49,001,408 | 49,001,679 | ||
| nsv5415548 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | Second Pass | NC_000023.10 | ChrX | 48,857,819 | 48,858,090 |
| nsv5415548 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_004070880.2 | ChrX|NW_00 4070880.2 | 1,240,837 | 1,241,108 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv17736886 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17736886 | Submitted genomic | NC_000023.11:g.490 01408_49001679del | GRCh38 (hg38) | NC_000023.11 | ChrX | 49,001,408 | 49,001,679 | ||
| nssv17736886 | Remapped | Perfect | NW_004070880.2:g.1 240837_1241108del | GRCh37.p13 | First Pass | NW_004070880.2 | ChrX|NW_00 4070880.2 | 1,240,837 | 1,241,108 |
| nssv17736886 | Remapped | Perfect | NC_000023.10:g.488 57819_48858090del | GRCh37.p13 | Second Pass | NC_000023.10 | ChrX | 48,857,819 | 48,858,090 |
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) | Allele Count (AC) | Allele Number (AN) |
|---|---|---|---|
| nssv17736886 | <0.001 | 1 | 6404 |