nsv590334
- Organism: Homo sapiens
- Study:nstd54 (Cooper et al. 2011)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:5,062
- Publication(s):Cooper et al. 2011
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: 398 SVs from 77 studies. See in: genome view
Overlapping variant regions from other studies: 397 SVs from 77 studies. See in: genome view
Overlapping variant regions from other studies: 180 SVs from 24 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv590334 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 52,999,041 | 53,004,102 |
| nsv590334 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000003.11 | Chr3 | 53,033,057 | 53,038,118 |
| nsv590334 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000003.10 | Chr3 | 53,008,097 | 53,013,158 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv963279 | copy number loss | SNP array | SNP genotyping analysis |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv963279 | Remapped | Perfect | NC_000003.12:g.(?_ 52999041)_(5300410 2_?)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 52,999,041 | 53,004,102 |
| nssv963279 | Remapped | Perfect | NC_000003.11:g.(?_ 53033057)_(5303811 8_?)del | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 53,033,057 | 53,038,118 |
| nssv963279 | Submitted genomic | NC_000003.10:g.(?_ 53008097)_(5301315 8_?)del | NCBI36 (hg18) | NC_000003.10 | Chr3 | 53,008,097 | 53,013,158 |