nsv2731021
- Organism: Homo sapiens
- Study:nstd130 (Leppa et al. 2016)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:91,762
- Publication(s):Leppa et al. 2016
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: 722 SVs from 70 studies. See in: genome view
Overlapping variant regions from other studies: 722 SVs from 70 studies. See in: genome view
Overlapping variant regions from other studies: 372 SVs from 22 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv2731021 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 46,466,003 | 46,557,764 |
| nsv2731021 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000008.10 | Chr8 | 47,377,625 | 47,469,386 |
| nsv2731021 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000008.9 | Chr8 | 47,496,790 | 47,588,551 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv13592794 | deletion | SNP array | Probe signal intensity |
| nssv13605130 | duplication | SNP array | Probe signal intensity |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv13592794 | Remapped | Perfect | NC_000008.11:g.(?_ 46466003)_(4655776 4_?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 46,466,003 | 46,557,764 |
| nssv13605130 | Remapped | Perfect | NC_000008.11:g.(?_ 46466003)_(4655776 4_?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 46,466,003 | 46,557,764 |
| nssv13592794 | Remapped | Perfect | NC_000008.10:g.(?_ 47377625)_(4746938 6_?)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 47,377,625 | 47,469,386 |
| nssv13605130 | Remapped | Perfect | NC_000008.10:g.(?_ 47377625)_(4746938 6_?)dup | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 47,377,625 | 47,469,386 |
| nssv13592794 | Submitted genomic | NC_000008.9:g.(?_4 7496790)_(47588551 _?)del | NCBI36 (hg18) | NC_000008.9 | Chr8 | 47,496,790 | 47,588,551 | ||
| nssv13605130 | Submitted genomic | NC_000008.9:g.(?_4 7496790)_(47588551 _?)dup | NCBI36 (hg18) | NC_000008.9 | Chr8 | 47,496,790 | 47,588,551 |