nsv820208
- Organism: Homo sapiens
- Study:nstd43 (Kim et al. 2009)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:8,669
- Publication(s):Kim et al. 2009
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: 529 SVs from 67 studies. See in: genome view
Overlapping variant regions from other studies: 529 SVs from 67 studies. See in: genome view
Overlapping variant regions from other studies: 303 SVs from 21 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv820208 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 120,043,291 | 120,051,959 |
| nsv820208 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000005.9 | Chr5 | 119,378,986 | 119,387,654 |
| nsv820208 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000005.8 | Chr5 | 119,406,885 | 119,415,553 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv1419878 | copy number loss | SAMN00002681 | Oligo aCGH | Probe signal intensity | 1,333 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv1419878 | Remapped | Perfect | NC_000005.10:g.(?_ 120043291)_(120051 959_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 120,043,291 | 120,051,959 |
| nssv1419878 | Remapped | Perfect | NC_000005.9:g.(?_1 19378986)_(1193876 54_?)del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 119,378,986 | 119,387,654 |
| nssv1419878 | Submitted genomic | NC_000005.8:g.(?_1 19406885)_(1194155 53_?)del | NCBI36 (hg18) | NC_000005.8 | Chr5 | 119,406,885 | 119,415,553 |