nsv469480
- Organism: Homo sapiens
- Study:nstd27 (Itsara et al. 2009)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI35 (hg17)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:91,452
- Publication(s):Itsara 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: 296 SVs from 53 studies. See in: genome view
Overlapping variant regions from other studies: 296 SVs from 53 studies. See in: genome view
Overlapping variant regions from other studies: 21 SVs from 5 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv469480 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 77,422,387 | 77,513,838 |
| nsv469480 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000012.11 | Chr12 | 77,816,167 | 77,907,618 |
| nsv469480 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000012.9 | Chr12 | 76,318,635 | 76,410,086 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Copy number |
|---|---|---|---|---|
| nssv645974 | copy number gain | SNP array | SNP genotyping analysis | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv645974 | Remapped | Perfect | NC_000012.12:g.(?_ 77422387)_(7751383 8_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 77,422,387 | 77,513,838 |
| nssv645974 | Remapped | Perfect | NC_000012.11:g.(?_ 77816167)_(7790761 8_?)dup | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 77,816,167 | 77,907,618 |
| nssv645974 | Submitted genomic | NC_000012.9:g.(?_7 6318635)_(76410086 _?)dup | NCBI35 (hg17) | NC_000012.9 | Chr12 | 76,318,635 | 76,410,086 |