nsv471042
- 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:280,403
- Description:Single-copy duplication
- 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: 893 SVs from 68 studies. See in: genome view
Overlapping variant regions from other studies: 893 SVs from 68 studies. See in: genome view
Overlapping variant regions from other studies: 279 SVs from 19 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv471042 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 113,824,793 | 114,105,195 |
| nsv471042 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000005.9 | Chr5 | 113,160,490 | 113,440,892 |
| nsv471042 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000005.8 | Chr5 | 113,188,389 | 113,468,791 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv545166 | copy number gain | HGDP00854 | SNP array | SNP genotyping analysis | 3 | 5 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv545166 | Remapped | Perfect | NC_000005.10:g.(?_ 113824793)_(114105 195_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 113,824,793 | 114,105,195 |
| nssv545166 | Remapped | Perfect | NC_000005.9:g.(?_1 13160490)_(1134408 92_?)dup | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 113,160,490 | 113,440,892 |
| nssv545166 | Submitted genomic | NC_000005.8:g.(?_1 13188389)_(1134687 91_?)dup | NCBI36 (hg18) | NC_000005.8 | Chr5 | 113,188,389 | 113,468,791 |