nsv3338784
- Organism: Homo sapiens
- Study:nstd162 (Audano et al. 2019)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh38 (hg38)
- Variant Calls:11
- Validation:Not tested
- Clinical Assertions: No
- Region Size:9,732
- 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: 420 SVs from 69 studies. See in: genome view
Overlapping variant regions from other studies: 420 SVs from 69 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3338784 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000012.12 | Chr12 | 8,405,912 | 8,415,643 | ||
| nsv3338784 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000012.11 | Chr12 | 8,558,508 | 8,568,239 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14512480 | deletion | SAMN04229548 | Sequencing | de novo and local sequence assembly | 23,009 |
| nssv14515957 | deletion | SAMN05181962 | Sequencing | de novo and local sequence assembly | 23,563 |
| nssv14520845 | deletion | SAMN03255769 | Sequencing | de novo and local sequence assembly | 21,134 |
| nssv14522624 | deletion | SAMN03838746 | Sequencing | de novo and local sequence assembly | 26,336 |
| nssv14525740 | deletion | SAMN04229552 | Sequencing | de novo and local sequence assembly | 24,632 |
| nssv14525977 | deletion | SAMN02744161 | Sequencing | de novo and local sequence assembly | 20,941 |
| nssv14528959 | deletion | SAMN09651199 | Sequencing | de novo and local sequence assembly | 27,381 |
| nssv14531046 | deletion | SAMN06885952 | Sequencing | de novo and local sequence assembly | 28,070 |
| nssv14531055 | deletion | SAMN05603847 | Sequencing | de novo and local sequence assembly | 26,021 |
| nssv14531635 | deletion | SAMN09643900 | Sequencing | de novo and local sequence assembly | 26,631 |
| nssv14532016 | deletion | SAMN05603729 | Sequencing | de novo and local sequence assembly | 24,108 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14512480 | Submitted genomic | NC_000012.12:g.840 5912_8415643del | GRCh38 (hg38) | NC_000012.12 | Chr12 | 8,405,912 | 8,415,643 | ||
| nssv14515957 | Submitted genomic | NC_000012.12:g.840 5912_8415643del | GRCh38 (hg38) | NC_000012.12 | Chr12 | 8,405,912 | 8,415,643 | ||
| nssv14520845 | Submitted genomic | NC_000012.12:g.840 5912_8415643del | GRCh38 (hg38) | NC_000012.12 | Chr12 | 8,405,912 | 8,415,643 | ||
| nssv14522624 | Submitted genomic | NC_000012.12:g.840 5912_8415643del | GRCh38 (hg38) | NC_000012.12 | Chr12 | 8,405,912 | 8,415,643 | ||
| nssv14525740 | Submitted genomic | NC_000012.12:g.840 5912_8415643del | GRCh38 (hg38) | NC_000012.12 | Chr12 | 8,405,912 | 8,415,643 | ||
| nssv14525977 | Submitted genomic | NC_000012.12:g.840 5912_8415643del | GRCh38 (hg38) | NC_000012.12 | Chr12 | 8,405,912 | 8,415,643 | ||
| nssv14528959 | Submitted genomic | NC_000012.12:g.840 5912_8415643del | GRCh38 (hg38) | NC_000012.12 | Chr12 | 8,405,912 | 8,415,643 | ||
| nssv14531046 | Submitted genomic | NC_000012.12:g.840 5912_8415643del | GRCh38 (hg38) | NC_000012.12 | Chr12 | 8,405,912 | 8,415,643 | ||
| nssv14531055 | Submitted genomic | NC_000012.12:g.840 5912_8415643del | GRCh38 (hg38) | NC_000012.12 | Chr12 | 8,405,912 | 8,415,643 | ||
| nssv14531635 | Submitted genomic | NC_000012.12:g.840 5912_8415643del | GRCh38 (hg38) | NC_000012.12 | Chr12 | 8,405,912 | 8,415,643 | ||
| nssv14532016 | Submitted genomic | NC_000012.12:g.840 5912_8415643del | GRCh38 (hg38) | NC_000012.12 | Chr12 | 8,405,912 | 8,415,643 | ||
| nssv14512480 | Remapped | Perfect | NC_000012.11:g.855 8508_8568239delNC_ 000012.11:g.855850 8_8568239del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 8,558,508 | 8,568,239 |
| nssv14515957 | Remapped | Perfect | NC_000012.11:g.855 8508_8568239delNC_ 000012.11:g.855850 8_8568239del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 8,558,508 | 8,568,239 |
| nssv14520845 | Remapped | Perfect | NC_000012.11:g.855 8508_8568239delNC_ 000012.11:g.855850 8_8568239del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 8,558,508 | 8,568,239 |
| nssv14522624 | Remapped | Perfect | NC_000012.11:g.855 8508_8568239delNC_ 000012.11:g.855850 8_8568239del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 8,558,508 | 8,568,239 |
| nssv14525740 | Remapped | Perfect | NC_000012.11:g.855 8508_8568239delNC_ 000012.11:g.855850 8_8568239del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 8,558,508 | 8,568,239 |
| nssv14525977 | Remapped | Perfect | NC_000012.11:g.855 8508_8568239delNC_ 000012.11:g.855850 8_8568239del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 8,558,508 | 8,568,239 |
| nssv14528959 | Remapped | Perfect | NC_000012.11:g.855 8508_8568239delNC_ 000012.11:g.855850 8_8568239del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 8,558,508 | 8,568,239 |
| nssv14531046 | Remapped | Perfect | NC_000012.11:g.855 8508_8568239delNC_ 000012.11:g.855850 8_8568239del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 8,558,508 | 8,568,239 |
| nssv14531055 | Remapped | Perfect | NC_000012.11:g.855 8508_8568239delNC_ 000012.11:g.855850 8_8568239del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 8,558,508 | 8,568,239 |
| nssv14531635 | Remapped | Perfect | NC_000012.11:g.855 8508_8568239delNC_ 000012.11:g.855850 8_8568239del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 8,558,508 | 8,568,239 |
| nssv14532016 | Remapped | Perfect | NC_000012.11:g.855 8508_8568239delNC_ 000012.11:g.855850 8_8568239del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 8,558,508 | 8,568,239 |