nsv5428175
- 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:419
- 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: 265 SVs from 22 studies. See in: genome view
Overlapping variant regions from other studies: 265 SVs from 22 studies. See in: genome view
Overlapping variant regions from other studies: 16 SVs from 3 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5428175 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000023.11 | ChrX | 53,307,035 | 53,307,453 | ||
| nsv5428175 | Remapped | Good | GRCh37.p13 | Primary Assembly | Second Pass | NC_000023.10 | ChrX | 53,336,217 | 53,336,634 |
| nsv5428175 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_004070877.1 | ChrX|NW_00 4070877.1 | 3,020,150 | 3,020,568 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv17737027 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17737027 | Submitted genomic | NC_000023.11:g.533 07035_53307453del | GRCh38 (hg38) | NC_000023.11 | ChrX | 53,307,035 | 53,307,453 | ||
| nssv17737027 | Remapped | Perfect | NW_004070877.1:g.3 020150_3020568del | GRCh37.p13 | First Pass | NW_004070877.1 | ChrX|NW_00 4070877.1 | 3,020,150 | 3,020,568 |
| nssv17737027 | Remapped | Good | NC_000023.10:g.533 36217_53336634del | GRCh37.p13 | Second Pass | NC_000023.10 | ChrX | 53,336,217 | 53,336,634 |
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) |
|---|---|---|---|
| nssv17737027 | <0.001 | 2 | 6404 |