nsv1046842
- Organism: Homo sapiens
- Study:nstd100 (Coe et al. 2014)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:592,049
- 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: 1798 SVs from 82 studies. See in: genome view
Overlapping variant regions from other studies: 1798 SVs from 82 studies. See in: genome view
Overlapping variant regions from other studies: 578 SVs from 22 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv1046842 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000013.11 | Chr13 | 81,718,275 | 82,310,323 |
| nsv1046842 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000013.10 | Chr13 | 82,292,410 | 82,884,458 |
| nsv1046842 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000013.9 | Chr13 | 81,190,411 | 81,782,459 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv3470346 | copy number loss | 9885178 | Oligo aCGH | Probe signal intensity | nssv3455093 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv3470346 | Remapped | Perfect | NC_000013.11:g.(?_ 81718275)_(8231032 3_?)del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 81,718,275 | 82,310,323 |
| nssv3470346 | Remapped | Perfect | NC_000013.10:g.(?_ 82292410)_(8288445 8_?)del | GRCh37.p13 | First Pass | NC_000013.10 | Chr13 | 82,292,410 | 82,884,458 |
| nssv3470346 | Submitted genomic | NC_000013.9:g.(?_8 1190411)_(81782459 _?)del | NCBI36 (hg18) | NC_000013.9 | Chr13 | 81,190,411 | 81,782,459 |