nsv6868966
- 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:56,134
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: 675 SVs from 72 studies. See in: genome view
Overlapping variant regions from other studies: 585 SVs from 67 studies. See in: genome view
Overlapping variant regions from other studies: 125 SVs from 31 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6868966 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000008.11 | Chr8 | 144,394,595 | 144,450,728 | ||
| nsv6868966 | Remapped | Pass | GRCh37.p13 | Primary Assembly | Second Pass | NC_000008.10 | Chr8 | 145,619,810 | 145,659,901 |
| nsv6868966 | Remapped | Pass | GRCh37.p13 | PATCHES | First Pass | NW_003315924.1 | Chr8|NW_00 3315924.1 | 163,854 | 203,777 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv18740023 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv18740023 | Submitted genomic | NC_000008.11:g.144 394595_144450728du p | GRCh38 (hg38) | NC_000008.11 | Chr8 | 144,394,595 | 144,450,728 | ||
| nssv18740023 | Remapped | Pass | NW_003315924.1:g.1 63854_203777dup | GRCh37.p13 | First Pass | NW_003315924.1 | Chr8|NW_00 3315924.1 | 163,854 | 203,777 |
| nssv18740023 | Remapped | Pass | NC_000008.10:g.145 619810_145659901du p | GRCh37.p13 | Second Pass | NC_000008.10 | Chr8 | 145,619,810 | 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) |
|---|---|---|---|
| nssv18740023 | 4e-06 | 1 | 275662 |