nsv819306
- 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:19,655
- 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: 286 SVs from 52 studies. See in: genome view
Overlapping variant regions from other studies: 286 SVs from 52 studies. See in: genome view
Overlapping variant regions from other studies: 87 SVs from 19 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv819306 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 80,083,674 | 80,103,328 |
| nsv819306 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000010.10 | Chr10 | 81,843,430 | 81,863,084 |
| nsv819306 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000010.9 | Chr10 | 81,833,410 | 81,853,064 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv1418680 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv1418680 | Remapped | Perfect | NC_000010.11:g.(?_ 80083674)_(8010332 8_?)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 80,083,674 | 80,103,328 |
| nssv1418680 | Remapped | Perfect | NC_000010.10:g.(?_ 81843430)_(8186308 4_?)del | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 81,843,430 | 81,863,084 |
| nssv1418680 | Submitted genomic | NC_000010.9:g.(?_8 1833410)_(81853064 _?)del | NCBI36 (hg18) | NC_000010.9 | Chr10 | 81,833,410 | 81,853,064 |