nsv7079849
- 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:2,336
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: 316 SVs from 24 studies. See in: genome view
Overlapping variant regions from other studies: 301 SVs from 23 studies. See in: genome view
Overlapping variant regions from other studies: 29 SVs from 12 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv7079849 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000023.11 | ChrX | 153,914,531 | 153,916,866 | ||
| nsv7079849 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | Second Pass | NC_000023.10 | ChrX | 153,179,985 | 153,182,320 |
| nsv7079849 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_003871103.3 | ChrX|NW_00 3871103.3 | 1,348,513 | 1,350,848 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv18455121 | deletion | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv18455121 | Submitted genomic | NC_000023.11:g.153 914531_153916866de l | GRCh38 (hg38) | NC_000023.11 | ChrX | 153,914,531 | 153,916,866 | ||
| nssv18455121 | Remapped | Perfect | NW_003871103.3:g.1 348513_1350848del | GRCh37.p13 | First Pass | NW_003871103.3 | ChrX|NW_00 3871103.3 | 1,348,513 | 1,350,848 |
| nssv18455121 | Remapped | Perfect | NC_000023.10:g.153 179985_153182320de l | GRCh37.p13 | Second Pass | NC_000023.10 | ChrX | 153,179,985 | 153,182,320 |
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) |
|---|---|---|---|
| nssv18455121 | 4.6e-05 | 10 | 217391 |