nsv933121
- Organism: Homo sapiens
- Study:nstd80 (Boone et al. 2013)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:245,540
- Publication(s):Boone et al. 2013
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: 1039 SVs from 83 studies. See in: genome view
Overlapping variant regions from other studies: 1039 SVs from 83 studies. See in: genome view
Overlapping variant regions from other studies: 314 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv933121 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 161,540,356 | 161,785,895 |
| nsv933121 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000006.11 | Chr6 | 161,961,388 | 162,206,927 |
| nsv933121 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000006.10 | Chr6 | 161,881,378 | 162,126,917 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis |
|---|---|---|---|---|
| nssv1616022 | deletion | 1731 | Oligo aCGH | Probe signal intensity |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nssv1616022 | Remapped | Perfect | NC_000006.12:g.(16 1502057_161540356) _(161785895_161788 158)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 161,502,057 | 161,540,356 | 161,785,895 | 161,788,158 |
| nssv1616022 | Remapped | Perfect | NC_000006.11:g.(16 1923089_161961388) _(162206927_162209 190)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 161,923,089 | 161,961,388 | 162,206,927 | 162,209,190 |
| nssv1616022 | Submitted genomic | NC_000006.10:g.(16 1843079_161881378) _(162126917_162129 180)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 161,843,079 | 161,881,378 | 162,126,917 | 162,129,180 |