nsv2785730
- Organism: Homo sapiens
- Study:nstd132 (Walker et al. 2017)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:208,293
- Publication(s):Walker et al. 2017
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: 1696 SVs from 90 studies. See in: genome view
Overlapping variant regions from other studies: 1696 SVs from 90 studies. See in: genome view
Overlapping variant regions from other studies: 680 SVs from 32 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv2785730 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000014.9 | Chr14 | 73,462,865 | 73,671,157 |
| nsv2785730 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000014.8 | Chr14 | 73,929,571 | 74,137,860 |
| nsv2785730 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000014.7 | Chr14 | 72,999,324 | 73,207,613 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv13662293 | copy number loss | CGPQ-250 | SNP array | Genotyping | 56 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv13662293 | Remapped | Good | NC_000014.9:g.(?_7 3462865)_(73671157 _?)del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 73,462,865 | 73,671,157 |
| nssv13662293 | Remapped | Perfect | NC_000014.8:g.(?_7 3929571)_(74137860 _?)del | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 73,929,571 | 74,137,860 |
| nssv13662293 | Submitted genomic | NC_000014.7:g.(?_7 2999324)_(73207613 _?)del | NCBI36 (hg18) | NC_000014.7 | Chr14 | 72,999,324 | 73,207,613 |