nsv5432979
- 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:168,001
- 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: 536 SVs from 44 studies. See in: genome view
Overlapping variant regions from other studies: 521 SVs from 44 studies. See in: genome view
Overlapping variant regions from other studies: 175 SVs from 23 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5432979 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000023.11 | ChrX | 154,881,606 | 155,049,606 | ||
| nsv5432979 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | Second Pass | NC_000023.10 | ChrX | 154,109,881 | 154,277,881 |
| nsv5432979 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_003871103.3 | ChrX|NW_00 3871103.3 | 2,315,585 | 2,483,585 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv17738158 | duplication | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17738158 | Submitted genomic | NC_000023.11:g.154 881606_155049606du p | GRCh38 (hg38) | NC_000023.11 | ChrX | 154,881,606 | 155,049,606 | ||
| nssv17738158 | Remapped | Perfect | NW_003871103.3:g.2 315585_2483585dup | GRCh37.p13 | First Pass | NW_003871103.3 | ChrX|NW_00 3871103.3 | 2,315,585 | 2,483,585 |
| nssv17738158 | Remapped | Perfect | NC_000023.10:g.154 109881_154277881du p | GRCh37.p13 | Second Pass | NC_000023.10 | ChrX | 154,109,881 | 154,277,881 |
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) |
|---|---|---|---|
| nssv17738158 | 0.001 | 5 | 4787 |