nsv4390931
- Organism: Homo sapiens
- Study:nstd171 (Wong et al. 2019)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1,363
- Publication(s):Wong et al. 2019
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: 165 SVs from 41 studies. See in: genome view
Overlapping variant regions from other studies: 165 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4390931 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 192,172,161 | 192,173,523 |
| nsv4390931 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 191,889,950 | 191,891,312 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv15707336 | deletion | Sequencing | Sequence alignment, Split read and paired-end mapping |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15707336 | Remapped | Perfect | NC_000003.12:g.192 172161_192173523de l | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 192,172,161 | 192,173,523 |
| nssv15707336 | Submitted genomic | NC_000003.11:g.191 889950_191891312de l | GRCh37 (hg19) | NC_000003.11 | Chr3 | 191,889,950 | 191,891,312 |
No validation data were submitted for this variant
No clinical assertion data were submitted for this variant
Genotype Information
| Variant Call ID | Allele Frequency (AF) | Allele Count (AC) | Allele Number (AN) |
|---|---|---|---|
| nssv15707336 | 0.029 | 10 | 348 |