nsv2787692
- 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:441,400
- 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: 1219 SVs from 79 studies. See in: genome view
Overlapping variant regions from other studies: 1219 SVs from 79 studies. See in: genome view
Overlapping variant regions from other studies: 311 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv2787692 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 45,037,924 | 45,479,323 |
| nsv2787692 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000005.9 | Chr5 | 45,038,026 | 45,479,425 |
| nsv2787692 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000005.8 | Chr5 | 45,073,783 | 45,515,182 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv13671510 | copy number loss | CGPQ-1766 | SNP array | Genotyping | 16 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv13671510 | Remapped | Perfect | NC_000005.10:g.(?_ 45037924)_(4547932 3_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 45,037,924 | 45,479,323 |
| nssv13671510 | Remapped | Perfect | NC_000005.9:g.(?_4 5038026)_(45479425 _?)del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 45,038,026 | 45,479,425 |
| nssv13671510 | Submitted genomic | NC_000005.8:g.(?_4 5073783)_(45515182 _?)del | NCBI36 (hg18) | NC_000005.8 | Chr5 | 45,073,783 | 45,515,182 |