nsv6916344
- 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:240,400
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: 683 SVs from 53 studies. See in: genome view
Overlapping variant regions from other studies: 422 SVs from 46 studies. See in: genome view
Overlapping variant regions from other studies: 123 SVs from 19 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6916344 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000011.10 | Chr11 | 111,909,401 | 112,149,800 | ||
| nsv6916344 | Remapped | Pass | GRCh37.p13 | Primary Assembly | Second Pass | NC_000011.9 | Chr11 | 111,780,125 | 111,945,380 |
| nsv6916344 | Remapped | Pass | GRCh37.p13 | PATCHES | First Pass | NW_003871080.1 | Chr11|NW_0 03871080.1 | 161,392 | 326,647 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv18573627 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv18573627 | Submitted genomic | NC_000011.10:g.111 909401_112149800du p | GRCh38 (hg38) | NC_000011.10 | Chr11 | 111,909,401 | 112,149,800 | ||
| nssv18573627 | Remapped | Pass | NW_003871080.1:g.1 61392_326647dup | GRCh37.p13 | First Pass | NW_003871080.1 | Chr11|NW_0 03871080.1 | 161,392 | 326,647 |
| nssv18573627 | Remapped | Pass | NC_000011.9:g.1117 80125_111945380dup | GRCh37.p13 | Second Pass | NC_000011.9 | Chr11 | 111,780,125 | 111,945,380 |
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) |
|---|---|---|---|
| nssv18573627 | 7e-06 | 2 | 274650 |