nsv3408691
- Organism: Homo sapiens
- Study:nstd162 (Audano et al. 2019)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh38 (hg38)
- Variant Calls:7
- Validation:Not tested
- Clinical Assertions: No
- Region Size:11,364
- 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: 307 SVs from 54 studies. See in: genome view
Overlapping variant regions from other studies: 387 SVs from 58 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3408691 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000009.12 | Chr9 | 38,863,134 | 38,874,497 | ||
| nsv3408691 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000009.11 | Chr9 | 38,863,131 | 38,874,494 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14776576 | deletion | SAMN02744161 | Sequencing | de novo and local sequence assembly | 20,941 |
| nssv14777343 | deletion | SAMN09643900 | Sequencing | de novo and local sequence assembly | 26,631 |
| nssv14778355 | deletion | SAMN05603847 | Sequencing | de novo and local sequence assembly | 26,021 |
| nssv14782169 | deletion | SAMN04229548 | Sequencing | de novo and local sequence assembly | 23,009 |
| nssv14784662 | deletion | SAMN03255769 | Sequencing | de novo and local sequence assembly | 21,134 |
| nssv14788293 | deletion | SAMN05603745 | Sequencing | de novo and local sequence assembly | 27,447 |
| nssv14791102 | deletion | SAMN04229552 | Sequencing | de novo and local sequence assembly | 24,632 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14776576 | Submitted genomic | NC_000009.12:g.388 63134_38874497del | GRCh38 (hg38) | NC_000009.12 | Chr9 | 38,863,134 | 38,874,497 | ||
| nssv14777343 | Submitted genomic | NC_000009.12:g.388 63134_38874497del | GRCh38 (hg38) | NC_000009.12 | Chr9 | 38,863,134 | 38,874,497 | ||
| nssv14778355 | Submitted genomic | NC_000009.12:g.388 63134_38874497del | GRCh38 (hg38) | NC_000009.12 | Chr9 | 38,863,134 | 38,874,497 | ||
| nssv14782169 | Submitted genomic | NC_000009.12:g.388 63134_38874497del | GRCh38 (hg38) | NC_000009.12 | Chr9 | 38,863,134 | 38,874,497 | ||
| nssv14784662 | Submitted genomic | NC_000009.12:g.388 63134_38874497del | GRCh38 (hg38) | NC_000009.12 | Chr9 | 38,863,134 | 38,874,497 | ||
| nssv14788293 | Submitted genomic | NC_000009.12:g.388 63134_38874497del | GRCh38 (hg38) | NC_000009.12 | Chr9 | 38,863,134 | 38,874,497 | ||
| nssv14791102 | Submitted genomic | NC_000009.12:g.388 63134_38874497del | GRCh38 (hg38) | NC_000009.12 | Chr9 | 38,863,134 | 38,874,497 | ||
| nssv14776576 | Remapped | Perfect | NC_000009.11:g.388 63131_38874494delN C_000009.11:g.3886 3131_38874494del | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 38,863,131 | 38,874,494 |
| nssv14777343 | Remapped | Perfect | NC_000009.11:g.388 63131_38874494delN C_000009.11:g.3886 3131_38874494del | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 38,863,131 | 38,874,494 |
| nssv14778355 | Remapped | Perfect | NC_000009.11:g.388 63131_38874494delN C_000009.11:g.3886 3131_38874494del | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 38,863,131 | 38,874,494 |
| nssv14782169 | Remapped | Perfect | NC_000009.11:g.388 63131_38874494delN C_000009.11:g.3886 3131_38874494del | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 38,863,131 | 38,874,494 |
| nssv14784662 | Remapped | Perfect | NC_000009.11:g.388 63131_38874494delN C_000009.11:g.3886 3131_38874494del | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 38,863,131 | 38,874,494 |
| nssv14788293 | Remapped | Perfect | NC_000009.11:g.388 63131_38874494delN C_000009.11:g.3886 3131_38874494del | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 38,863,131 | 38,874,494 |
| nssv14791102 | Remapped | Perfect | NC_000009.11:g.388 63131_38874494delN C_000009.11:g.3886 3131_38874494del | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 38,863,131 | 38,874,494 |