nsv482125
- Organism: Homo sapiens
- Study:nstd39 (Schuster et al. 2010)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:NCBI35 (hg17)
- Variant Calls:1
- Validation:Yes
- Clinical Assertions: No
- Region Size:5,634
- Description:RPTN
- Publication(s):Schuster et al. 2010
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: 146 SVs from 36 studies. See in: genome view
Overlapping variant regions from other studies: 158 SVs from 38 studies. See in: genome view
Overlapping variant regions from other studies: 1 SVs from 1 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv482125 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 152,153,595 | 152,159,228 |
| nsv482125 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000001.10 | Chr1 | 152,126,071 | 152,131,704 |
| nsv482125 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000001.8 | Chr1 | 148,939,144 | 148,944,777 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv558486 | copy number loss | KB1 | Sequencing | Read depth | 1 | 187 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv558486 | Remapped | Perfect | NC_000001.11:g.(15 2153595_?)_(?_1521 59228)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 152,153,595 | 152,159,228 |
| nssv558486 | Remapped | Perfect | NC_000001.10:g.(15 2126071_?)_(?_1521 31704)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 152,126,071 | 152,131,704 |
| nssv558486 | Submitted genomic | NC_000001.8:g.(148 939144_?)_(?_14894 4777)del | NCBI35 (hg17) | NC_000001.8 | Chr1 | 148,939,144 | 148,944,777 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| nssv558486 | 2 | KB1 | Oligo aCGH | Probe signal intensity | Pass |