nsv6641827
- 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:147
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: 437 SVs from 52 studies. See in: genome view
Overlapping variant regions from other studies: 498 SVs from 42 studies. See in: genome view
Overlapping variant regions from other studies: 78 SVs from 25 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6641827 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000001.11 | Chr1 | 147,568,866 | 147,569,012 | ||
| nsv6641827 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | Second Pass | NC_000001.10 | Chr1 | 147,040,648 | 147,040,794 |
| nsv6641827 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_003871055.3 | Chr1|NW_00 3871055.3 | 4,384,279 | 4,384,425 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv18579897 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv18579897 | Submitted genomic | NC_000001.11:g.147 568866_147569012du p | GRCh38 (hg38) | NC_000001.11 | Chr1 | 147,568,866 | 147,569,012 | ||
| nssv18579897 | Remapped | Perfect | NW_003871055.3:g.4 384279_4384425dup | GRCh37.p13 | First Pass | NW_003871055.3 | Chr1|NW_00 3871055.3 | 4,384,279 | 4,384,425 |
| nssv18579897 | Remapped | Perfect | NC_000001.10:g.147 040648_147040794du p | GRCh37.p13 | Second Pass | NC_000001.10 | Chr1 | 147,040,648 | 147,040,794 |
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) |
|---|---|---|---|
| nssv18579897 | <0.001 | 114 | 216136 |