nsv3332290
- Organism: Homo sapiens
- Study:nstd162 (Audano et al. 2019)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh38 (hg38)
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:9,509
- Publication(s):Audano 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: 282 SVs from 75 studies. See in: genome view
Overlapping variant regions from other studies: 282 SVs from 75 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3332290 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000011.10 | Chr11 | 5,852,756 | 5,862,264 | ||
| nsv3332290 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000011.9 | Chr11 | 5,873,986 | 5,883,494 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14517354 | deletion | SAMN06885952 | Sequencing | de novo and local sequence assembly | 28,070 |
| nssv14529598 | deletion | SAMN03838746 | Sequencing | de novo and local sequence assembly | 26,336 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14517354 | Submitted genomic | NC_000011.10:g.585 2756_5862264del | GRCh38 (hg38) | NC_000011.10 | Chr11 | 5,852,756 | 5,862,264 | ||
| nssv14529598 | Submitted genomic | NC_000011.10:g.585 2756_5862264del | GRCh38 (hg38) | NC_000011.10 | Chr11 | 5,852,756 | 5,862,264 | ||
| nssv14517354 | Remapped | Perfect | NC_000011.9:g.5873 986_5883494delNC_0 00011.9:g.5873986_ 5883494del | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 5,873,986 | 5,883,494 |
| nssv14529598 | Remapped | Perfect | NC_000011.9:g.5873 986_5883494delNC_0 00011.9:g.5873986_ 5883494del | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 5,873,986 | 5,883,494 |