nsv6670489
- 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:4,172,476
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: 9991 SVs from 121 studies. See in: genome view
Overlapping variant regions from other studies: 9993 SVs from 121 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6670489 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000001.11 | Chr1 | 227,575,489 | 231,747,964 | ||
| nsv6670489 | Remapped | Good | GRCh37.p13 | Primary Assembly | First Pass | NC_000001.10 | Chr1 | 227,763,190 | 231,883,710 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv18368437 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv18368437 | Submitted genomic | NC_000001.11:g.227 575489_231747964de l | GRCh38 (hg38) | NC_000001.11 | Chr1 | 227,575,489 | 231,747,964 | ||
| nssv18368437 | Remapped | Good | NC_000001.10:g.227 763190_231883710de l | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 227,763,190 | 231,883,710 |
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) |
|---|---|---|---|
| nssv18368437 | 4e-06 | 1 | 276138 |