nsv5894175
- Organism: Homo sapiens
- Study:nstd209 (Almarri et al. 2020)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:157,860
- 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: 1299 SVs from 95 studies. See in: genome view
Overlapping variant regions from other studies: 1073 SVs from 87 studies. See in: genome view
Overlapping variant regions from other studies: 540 SVs from 43 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5894175 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000005.10 | Chr5 | 140,704,745 | 140,862,604 | ||
| nsv5894175 | Remapped | Pass | GRCh37.p13 | Primary Assembly | Second Pass | NC_000005.9 | Chr5 | 140,144,410 | 140,242,189 |
| nsv5894175 | Remapped | Pass | GRCh37.p13 | PATCHES | First Pass | NW_004775428.1 | Chr5|NW_00 4775428.1 | 1 | 97,780 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv17420395 | duplication | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17420395 | Submitted genomic | NC_000005.10:g.140 704745_140862604du p | GRCh38 (hg38) | NC_000005.10 | Chr5 | 140,704,745 | 140,862,604 | ||
| nssv17420395 | Remapped | Pass | NW_004775428.1:g.1 _97780dup | GRCh37.p13 | First Pass | NW_004775428.1 | Chr5|NW_00 4775428.1 | 1 | 97,780 |
| nssv17420395 | Remapped | Pass | NC_000005.9:g.1401 44410_140242189dup | GRCh37.p13 | Second Pass | NC_000005.9 | Chr5 | 140,144,410 | 140,242,189 |
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) |
|---|---|---|---|
| nssv17420395 | 0.001 | 1 | 1794 |