nsv429980
- Organism: Homo sapiens
- Study:nstd12 (Marshall et al. 2008)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI35 (hg17)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:190,001
- Publication(s):Marshall et al. 2008
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: 1194 SVs from 85 studies. See in: genome view
Overlapping variant regions from other studies: 1194 SVs from 85 studies. See in: genome view
Overlapping variant regions from other studies: 52 SVs from 9 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv429980 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 189,378,213 | 189,568,213 |
| nsv429980 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000001.10 | Chr1 | 189,347,343 | 189,537,343 |
| nsv429980 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000001.8 | Chr1 | 186,079,000 | 186,269,000 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv560275 | copy number loss | 60980L | SNP array | SNP genotyping analysis | 8 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv560275 | Remapped | Perfect | NC_000001.11:g.(?_ 189378213)_(189568 213_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 189,378,213 | 189,568,213 |
| nssv560275 | Remapped | Perfect | NC_000001.10:g.(?_ 189347343)_(189537 343_?)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 189,347,343 | 189,537,343 |
| nssv560275 | Submitted genomic | NC_000001.8:g.(?_1 86079000)_(1862690 00_?)del | NCBI35 (hg17) | NC_000001.8 | Chr1 | 186,079,000 | 186,269,000 |