nsv471219
- 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:111,984
- 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: 1240 SVs from 79 studies. See in: genome view
Overlapping variant regions from other studies: 1240 SVs from 79 studies. See in: genome view
Overlapping variant regions from other studies: 448 SVs from 24 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv471219 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000022.11 | Chr22 | 48,897,799 | 49,009,782 |
| nsv471219 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000022.10 | Chr22 | 49,293,611 | 49,405,594 |
| nsv471219 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000022.9 | Chr22 | 47,679,615 | 47,791,598 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv545591 | copy number gain | HGDP00614 | SNP array | SNP genotyping analysis | 3 | 7 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv545591 | Remapped | Perfect | NC_000022.11:g.(?_ 48897799)_(4900978 2_?)dup | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 48,897,799 | 49,009,782 |
| nssv545591 | Remapped | Perfect | NC_000022.10:g.(?_ 49293611)_(4940559 4_?)dup | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 49,293,611 | 49,405,594 |
| nssv545591 | Submitted genomic | NC_000022.9:g.(?_4 7679615)_(47791598 _?)dup | NCBI36 (hg18) | NC_000022.9 | Chr22 | 47,679,615 | 47,791,598 |