nsv6867166
- 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:129,858
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: 855 SVs from 81 studies. See in: genome view
Overlapping variant regions from other studies: 848 SVs from 84 studies. See in: genome view
Overlapping variant regions from other studies: 440 SVs from 38 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6867166 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000009.12 | Chr9 | 133,232,578 | 133,362,435 | ||
| nsv6867166 | Remapped | Pass | GRCh37.p13 | Primary Assembly | Second Pass | NC_000009.11 | Chr9 | 136,107,965 | 136,229,311 |
| nsv6867166 | Remapped | Good | GRCh37.p13 | PATCHES | First Pass | NW_003315925.1 | Chr9|NW_00 3315925.1 | 58,524 | 188,529 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv18750599 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv18750599 | Submitted genomic | NC_000009.12:g.133 232578_133362435du p | GRCh38 (hg38) | NC_000009.12 | Chr9 | 133,232,578 | 133,362,435 | ||
| nssv18750599 | Remapped | Good | NW_003315925.1:g.5 8524_188529dup | GRCh37.p13 | First Pass | NW_003315925.1 | Chr9|NW_00 3315925.1 | 58,524 | 188,529 |
| nssv18750599 | Remapped | Pass | NC_000009.11:g.136 107965_136229311du p | GRCh37.p13 | Second Pass | NC_000009.11 | Chr9 | 136,107,965 | 136,229,311 |
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) |
|---|---|---|---|
| nssv18750599 | 4e-06 | 1 | 268218 |