nsv470390
- Organism: Homo sapiens
- Study:nstd30 (Jakobsson et al. 2008)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:137,619
- Publication(s):Jakobsson 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: 690 SVs from 75 studies. See in: genome view
Overlapping variant regions from other studies: 690 SVs from 75 studies. See in: genome view
Overlapping variant regions from other studies: 206 SVs from 23 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv470390 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 125,798,826 | 125,936,444 |
| nsv470390 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000007.13 | Chr7 | 125,438,880 | 125,576,498 |
| nsv470390 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000007.12 | Chr7 | 125,226,116 | 125,363,734 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|---|
| nssv546209 | copy number loss | HGDP00911 | SNP array | SNP genotyping analysis | 1 | Heterozygous | 6 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv546209 | Remapped | Perfect | NC_000007.14:g.(?_ 125798826)_(125936 444_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 125,798,826 | 125,936,444 |
| nssv546209 | Remapped | Perfect | NC_000007.13:g.(?_ 125438880)_(125576 498_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 125,438,880 | 125,576,498 |
| nssv546209 | Submitted genomic | NC_000007.12:g.(?_ 125226116)_(125363 734_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 125,226,116 | 125,363,734 |