nsv3343212
- 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:21,670
- 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: 581 SVs from 64 studies. See in: genome view
Overlapping variant regions from other studies: 581 SVs from 64 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3343212 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000018.10 | Chr18 | 67,628,337 | 67,650,006 | ||
| nsv3343212 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000018.9 | Chr18 | 65,295,574 | 65,317,243 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14598579 | deletion | SAMN05603745 | Sequencing | de novo and local sequence assembly | 27,447 |
| nssv14605971 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv14598579 | Submitted genomic | NC_000018.10:g.676 28337_67650006del | GRCh38 (hg38) | NC_000018.10 | Chr18 | 67,628,337 | 67,650,006 | ||
| nssv14605971 | Submitted genomic | NC_000018.10:g.676 28337_67650006del | GRCh38 (hg38) | NC_000018.10 | Chr18 | 67,628,337 | 67,650,006 | ||
| nssv14598579 | Remapped | Perfect | NC_000018.9:g.6529 5574_65317243delNC _000018.9:g.652955 74_65317243del | GRCh37.p13 | First Pass | NC_000018.9 | Chr18 | 65,295,574 | 65,317,243 |
| nssv14605971 | Remapped | Perfect | NC_000018.9:g.6529 5574_65317243delNC _000018.9:g.652955 74_65317243del | GRCh37.p13 | First Pass | NC_000018.9 | Chr18 | 65,295,574 | 65,317,243 |