nsv482081
- 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:15,975
- Description:GSTM2
- 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: 516 SVs from 70 studies. See in: genome view
Overlapping variant regions from other studies: 518 SVs from 70 studies. See in: genome view
Overlapping variant regions from other studies: 7 SVs from 5 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv482081 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 109,668,022 | 109,683,996 |
| nsv482081 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000001.10 | Chr1 | 110,210,644 | 110,226,618 |
| nsv482081 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000001.8 | Chr1 | 109,922,686 | 109,938,660 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv558442 | copy number gain | KB1 | Sequencing | Read depth | 4 | 187 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv558442 | Remapped | Perfect | NC_000001.11:g.(10 9668022_?)_(?_1096 83996)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 109,668,022 | 109,683,996 |
| nssv558442 | Remapped | Perfect | NC_000001.10:g.(11 0210644_?)_(?_1102 26618)dup | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 110,210,644 | 110,226,618 |
| nssv558442 | Submitted genomic | NC_000001.8:g.(109 922686_?)_(?_10993 8660)dup | NCBI35 (hg17) | NC_000001.8 | Chr1 | 109,922,686 | 109,938,660 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| nssv558442 | 2 | KB1 | Oligo aCGH | Probe signal intensity | Pass |