nsv5952297
- Organism: Homo sapiens
- Study:nstd209 (Almarri et al. 2020)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:82
- Publication(s):Almarri et al. 2020
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: 284 SVs from 33 studies. See in: genome view
Overlapping variant regions from other studies: 284 SVs from 33 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5952297 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000021.9 | Chr21 | 39,080,290 | 39,080,371 | ||
| nsv5952297 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000021.8 | Chr21 | 40,452,216 | 40,452,297 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv17395501 | deletion | Sequencing | Sequence alignment |
| nssv17402324 | duplication | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17395501 | Submitted genomic | NC_000021.9:g.3908 0290_39080371del | GRCh38 (hg38) | NC_000021.9 | Chr21 | 39,080,290 | 39,080,371 | ||
| nssv17402324 | Submitted genomic | NC_000021.9:g.3908 0290_39080371dup | GRCh38 (hg38) | NC_000021.9 | Chr21 | 39,080,290 | 39,080,371 | ||
| nssv17395501 | Remapped | Perfect | NC_000021.8:g.4045 2216_40452297del | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 40,452,216 | 40,452,297 |
| nssv17402324 | Remapped | Perfect | NC_000021.8:g.4045 2216_40452297dup | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 40,452,216 | 40,452,297 |
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) |
|---|---|---|---|
| nssv17402324 | 0.009 | 12 | 1388 |