nsv5939002
- 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:64
- 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: 318 SVs from 41 studies. See in: genome view
Overlapping variant regions from other studies: 318 SVs from 41 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5939002 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000016.10 | Chr16 | 88,411,461 | 88,411,524 | ||
| nsv5939002 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000016.9 | Chr16 | 88,477,869 | 88,477,932 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv17369850 | duplication | Sequencing | Sequence alignment |
| nssv17376927 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17369850 | Submitted genomic | NC_000016.10:g.884 11461_88411524dup | GRCh38 (hg38) | NC_000016.10 | Chr16 | 88,411,461 | 88,411,524 | ||
| nssv17376927 | Submitted genomic | NC_000016.10:g.884 11461_88411524del | GRCh38 (hg38) | NC_000016.10 | Chr16 | 88,411,461 | 88,411,524 | ||
| nssv17369850 | Remapped | Perfect | NC_000016.9:g.8847 7869_88477932dup | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 88,477,869 | 88,477,932 |
| nssv17376927 | Remapped | Perfect | NC_000016.9:g.8847 7869_88477932del | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 88,477,869 | 88,477,932 |
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) |
|---|---|---|---|
| nssv17369850 | <0.001 | 2 | 444 |