nsv3067123
- Organism: Homo sapiens
- Study:nstd143 (Shang et al. 2017)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:4,978
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: 482 SVs from 62 studies. See in: genome view
Overlapping variant regions from other studies: 482 SVs from 62 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3067123 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000016.10 | Chr16 | 172,202 | 177,179 |
| nsv3067123 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000016.9 | Chr16 | 222,201 | 227,178 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv14038745 | duplication | Sequencing | Read depth and paired-end mapping |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14038745 | Remapped | Perfect | NC_000016.10:g.172 202_177179dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 172,202 | 177,179 |
| nssv14038745 | Submitted genomic | NC_000016.9:g.2222 01_227178dup | GRCh37 (hg19) | NC_000016.9 | Chr16 | 222,201 | 227,178 |
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) |
|---|---|
| nssv14038745 | 4.49e-005 |