nsv590340
- 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:5,188
- 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: 400 SVs from 77 studies. See in: genome view
Overlapping variant regions from other studies: 399 SVs from 77 studies. See in: genome view
Overlapping variant regions from other studies: 179 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv590340 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 52,999,780 | 53,004,967 |
| nsv590340 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000003.11 | Chr3 | 53,033,796 | 53,038,983 |
| nsv590340 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000003.10 | Chr3 | 53,008,836 | 53,014,023 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv963317 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv963317 | Remapped | Perfect | NC_000003.12:g.(?_ 52999780)_(5300496 7_?)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 52,999,780 | 53,004,967 |
| nssv963317 | Remapped | Perfect | NC_000003.11:g.(?_ 53033796)_(5303898 3_?)del | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 53,033,796 | 53,038,983 |
| nssv963317 | Submitted genomic | NC_000003.10:g.(?_ 53008836)_(5301402 3_?)del | NCBI36 (hg18) | NC_000003.10 | Chr3 | 53,008,836 | 53,014,023 |