nsv7079762
- 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:16,984
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: 284 SVs from 25 studies. See in: genome view
Overlapping variant regions from other studies: 278 SVs from 25 studies. See in: genome view
Overlapping variant regions from other studies: 20 SVs from 13 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv7079762 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000023.11 | ChrX | 153,493,176 | 153,510,159 | ||
| nsv7079762 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | Second Pass | NC_000023.10 | ChrX | 152,758,634 | 152,775,617 |
| nsv7079762 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_003871103.3 | ChrX|NW_00 3871103.3 | 927,159 | 944,142 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv18653938 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv18653938 | Submitted genomic | NC_000023.11:g.153 493176_153510159du p | GRCh38 (hg38) | NC_000023.11 | ChrX | 153,493,176 | 153,510,159 | ||
| nssv18653938 | Remapped | Perfect | NW_003871103.3:g.9 27159_944142dup | GRCh37.p13 | First Pass | NW_003871103.3 | ChrX|NW_00 3871103.3 | 927,159 | 944,142 |
| nssv18653938 | Remapped | Perfect | NC_000023.10:g.152 758634_152775617du p | GRCh37.p13 | Second Pass | NC_000023.10 | ChrX | 152,758,634 | 152,775,617 |
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) |
|---|---|---|---|
| nssv18653938 | 5e-06 | 1 | 200000 |