nsv3067135
- 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:153,952
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: 1859 SVs from 94 studies. See in: genome view
Overlapping variant regions from other studies: 1861 SVs from 94 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3067135 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000016.10 | Chr16 | 34,105 | 188,056 |
| nsv3067135 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000016.9 | Chr16 | 84,105 | 238,055 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv14038734 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv14038734 | Remapped | Good | NC_000016.10:g.341 05_188056dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 34,105 | 188,056 |
| nssv14038734 | Submitted genomic | NC_000016.9:g.8410 5_238055dup | GRCh37 (hg19) | NC_000016.9 | Chr16 | 84,105 | 238,055 |
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) |
|---|---|
| nssv14038734 | 4.49e-005 |