nsv7088000
- Organism: Homo sapiens
- Study:nstd229 (Jun et al. 2023)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:486,700
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: 1006 SVs from 72 studies. See in: genome view
Overlapping variant regions from other studies: 993 SVs from 72 studies. See in: genome view
Overlapping variant regions from other studies: 242 SVs from 33 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv7088000 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000023.11 | ChrX | 48,784,801 | 49,271,500 | ||
| nsv7088000 | Remapped | Good | GRCh37.p13 | Primary Assembly | Second Pass | NC_000023.10 | ChrX | 48,643,209 | 49,127,962 |
| nsv7088000 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_004070880.2 | ChrX|NW_00 4070880.2 | 1,024,230 | 1,510,929 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv18655702 | duplication | Sequencing | Split read and paired-end mapping |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18655702 | Submitted genomic | NC_000023.11:g.487 84801_49271500dup | GRCh38 (hg38) | NC_000023.11 | ChrX | 48,784,801 | 49,271,500 | ||
| nssv18655702 | Remapped | Perfect | NW_004070880.2:g.1 024230_1510929dup | GRCh37.p13 | First Pass | NW_004070880.2 | ChrX|NW_00 4070880.2 | 1,024,230 | 1,510,929 |
| nssv18655702 | Remapped | Good | NC_000023.10:g.486 43209_49127962dup | GRCh37.p13 | Second Pass | NC_000023.10 | ChrX | 48,643,209 | 49,127,962 |
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) |
|---|---|---|---|
| nssv18655702 | 4.2e-05 | 9 | 214286 |