nsv6861677
- 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:7,074
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 40 studies. See in: genome view
Overlapping variant regions from other studies: 428 SVs from 39 studies. See in: genome view
Overlapping variant regions from other studies: 46 SVs from 12 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6861677 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000008.11 | Chr8 | 144,430,121 | 144,437,194 | ||
| nsv6861677 | Remapped | Pass | GRCh37.p13 | Primary Assembly | Second Pass | NC_000008.10 | Chr8 | 145,655,504 | 145,659,901 |
| nsv6861677 | Remapped | Pass | GRCh37.p13 | PATCHES | First Pass | NW_003315924.1 | Chr8|NW_00 3315924.1 | 199,380 | 203,777 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv18553247 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv18553247 | Submitted genomic | NC_000008.11:g.144 430121_144437194de l | GRCh38 (hg38) | NC_000008.11 | Chr8 | 144,430,121 | 144,437,194 | ||
| nssv18553247 | Remapped | Pass | NW_003315924.1:g.1 99380_203777del | GRCh37.p13 | First Pass | NW_003315924.1 | Chr8|NW_00 3315924.1 | 199,380 | 203,777 |
| nssv18553247 | Remapped | Pass | NC_000008.10:g.145 655504_145659901de l | GRCh37.p13 | Second Pass | NC_000008.10 | Chr8 | 145,655,504 | 145,659,901 |
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) |
|---|---|---|---|
| nssv18553247 | 4e-06 | 1 | 276180 |