nsv5424349
- 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:2,242
- 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: 339 SVs from 34 studies. See in: genome view
Overlapping variant regions from other studies: 334 SVs from 34 studies. See in: genome view
Overlapping variant regions from other studies: 45 SVs from 17 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5424349 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000023.11 | ChrX | 154,394,113 | 154,396,354 | ||
| nsv5424349 | Remapped | Good | GRCh37.p13 | Primary Assembly | Second Pass | NC_000023.10 | ChrX | 153,622,455 | 153,624,695 |
| nsv5424349 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_003871103.3 | ChrX|NW_00 3871103.3 | 1,828,092 | 1,830,333 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv17738112 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17738112 | Submitted genomic | NC_000023.11:g.154 394113_154396354de l | GRCh38 (hg38) | NC_000023.11 | ChrX | 154,394,113 | 154,396,354 | ||
| nssv17738112 | Remapped | Perfect | NW_003871103.3:g.1 828092_1830333del | GRCh37.p13 | First Pass | NW_003871103.3 | ChrX|NW_00 3871103.3 | 1,828,092 | 1,830,333 |
| nssv17738112 | Remapped | Good | NC_000023.10:g.153 622455_153624695de l | GRCh37.p13 | Second Pass | NC_000023.10 | ChrX | 153,622,455 | 153,624,695 |
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) |
|---|---|---|---|
| nssv17738112 | 0.002 | 14 | 6404 |