nsv5430478
- 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:47,866
- 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: 504 SVs from 53 studies. See in: genome view
Overlapping variant regions from other studies: 505 SVs from 53 studies. See in: genome view
Overlapping variant regions from other studies: 75 SVs from 27 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5430478 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000023.11 | ChrX | 104,003,135 | 104,051,000 | ||
| nsv5430478 | Remapped | Good | GRCh37.p13 | Primary Assembly | Second Pass | NC_000023.10 | ChrX | 103,257,707 | 103,305,566 |
| nsv5430478 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_004070885.1 | ChrX|NW_00 4070885.1 | 139,551 | 187,416 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv17737141 | duplication | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17737141 | Submitted genomic | NC_000023.11:g.104 003135_104051000du p | GRCh38 (hg38) | NC_000023.11 | ChrX | 104,003,135 | 104,051,000 | ||
| nssv17737141 | Remapped | Perfect | NW_004070885.1:g.1 39551_187416dup | GRCh37.p13 | First Pass | NW_004070885.1 | ChrX|NW_00 4070885.1 | 139,551 | 187,416 |
| nssv17737141 | Remapped | Good | NC_000023.10:g.103 257707_103305566du p | GRCh37.p13 | Second Pass | NC_000023.10 | ChrX | 103,257,707 | 103,305,566 |
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) |
|---|---|---|---|
| nssv17737141 | 0.012 | 55 | 4763 |