nsv1044335
- Organism: Homo sapiens
- Study:nstd100 (Coe et al. 2014)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:116,339
- Publication(s):Coe et al. 2014
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: 2945 SVs from 100 studies. See in: genome view
Overlapping variant regions from other studies: 2947 SVs from 100 studies. See in: genome view
Overlapping variant regions from other studies: 1634 SVs from 37 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv1044335 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000015.10 | Chr15 | 20,305,889 | 20,422,227 |
| nsv1044335 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000015.9 | Chr15 | 20,511,142 | 20,627,480 |
| nsv1044335 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000015.8 | Chr15 | 18,771,156 | 18,887,494 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv3536097 | copy number loss | SNP array | Probe signal intensity |
| nssv3713706 | copy number gain | SNP array | Probe signal intensity |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv3536097 | Remapped | Perfect | NC_000015.10:g.(?_ 20305889)_(2042222 7_?)del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 20,305,889 | 20,422,227 |
| nssv3713706 | Remapped | Perfect | NC_000015.10:g.(?_ 20305889)_(2042222 7_?)dup | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 20,305,889 | 20,422,227 |
| nssv3536097 | Remapped | Perfect | NC_000015.9:g.(?_2 0511142)_(20627480 _?)del | GRCh37.p13 | First Pass | NC_000015.9 | Chr15 | 20,511,142 | 20,627,480 |
| nssv3713706 | Remapped | Perfect | NC_000015.9:g.(?_2 0511142)_(20627480 _?)dup | GRCh37.p13 | First Pass | NC_000015.9 | Chr15 | 20,511,142 | 20,627,480 |
| nssv3536097 | Submitted genomic | NC_000015.8:g.(?_1 8771156)_(18887494 _?)del | NCBI36 (hg18) | NC_000015.8 | Chr15 | 18,771,156 | 18,887,494 | ||
| nssv3713706 | Submitted genomic | NC_000015.8:g.(?_1 8771156)_(18887494 _?)dup | NCBI36 (hg18) | NC_000015.8 | Chr15 | 18,771,156 | 18,887,494 |