nsv5432362
- 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:4,605
- 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: 338 SVs from 23 studies. See in: genome view
Overlapping variant regions from other studies: 330 SVs from 23 studies. See in: genome view
Overlapping variant regions from other studies: 60 SVs from 7 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5432362 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000023.11 | ChrX | 153,765,043 | 153,769,647 | ||
| nsv5432362 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | Second Pass | NC_000023.10 | ChrX | 153,030,498 | 153,035,102 |
| nsv5432362 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_003871103.3 | ChrX|NW_00 3871103.3 | 1,199,026 | 1,203,630 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv17738089 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17738089 | Submitted genomic | NC_000023.11:g.153 765043_153769647de l | GRCh38 (hg38) | NC_000023.11 | ChrX | 153,765,043 | 153,769,647 | ||
| nssv17738089 | Remapped | Perfect | NW_003871103.3:g.1 199026_1203630del | GRCh37.p13 | First Pass | NW_003871103.3 | ChrX|NW_00 3871103.3 | 1,199,026 | 1,203,630 |
| nssv17738089 | Remapped | Perfect | NC_000023.10:g.153 030498_153035102de l | GRCh37.p13 | Second Pass | NC_000023.10 | ChrX | 153,030,498 | 153,035,102 |
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) |
|---|---|---|---|
| nssv17738089 | <0.001 | 1 | 6404 |