nsv469500
- 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:287,054
- 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: 1356 SVs from 84 studies. See in: genome view
Overlapping variant regions from other studies: 1356 SVs from 84 studies. See in: genome view
Overlapping variant regions from other studies: 50 SVs from 6 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv469500 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 84,079,772 | 84,366,825 |
| nsv469500 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000012.11 | Chr12 | 84,473,551 | 84,760,604 |
| nsv469500 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000012.9 | Chr12 | 82,976,019 | 83,263,072 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv544356 | copy number gain | 1780862540_A | SNP array | SNP genotyping analysis | 3 | 8 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv544356 | Remapped | Perfect | NC_000012.12:g.(?_ 84079772)_(8436682 5_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 84,079,772 | 84,366,825 |
| nssv544356 | Remapped | Perfect | NC_000012.11:g.(?_ 84473551)_(8476060 4_?)dup | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 84,473,551 | 84,760,604 |
| nssv544356 | Submitted genomic | NC_000012.9:g.(?_8 2976019)_(83263072 _?)dup | NCBI35 (hg17) | NC_000012.9 | Chr12 | 82,976,019 | 83,263,072 |