nsv3169214
- Organism: Homo sapiens
- Study:nstd158 (Cleal 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:58,002
- Publication(s):Cleal 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: 223 SVs from 38 studies. See in: genome view
Overlapping variant regions from other studies: 223 SVs from 38 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3169214 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 85,898,928 (-151, +151) | 85,956,929 (-151, +151) |
| nsv3169214 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 85,948,078 (-151, +151) | 86,006,079 (-151, +151) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14238831 | deletion | DB51 | Sequencing | Paired-end mapping | 89 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14238831 | Remapped | Perfect | NC_000003.12:g.(85 898777_85899079)_( 85956778_85957080) del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 85,898,928 (-151, +151) | 85,956,929 (-151, +151) |
| nssv14238831 | Submitted genomic | NC_000003.11:g.(85 947927_85948229)_( 86005928_86006230) del | GRCh37 (hg19) | NC_000003.11 | Chr3 | 85,948,078 (-151, +151) | 86,006,079 (-151, +151) |