nsv482162
- 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:3,124
- Description:CRYAB
- 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: 115 SVs from 22 studies. See in: genome view
Overlapping variant regions from other studies: 115 SVs from 22 studies. See in: genome view
Overlapping variant regions from other studies: 6 SVs from 5 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv482162 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 111,908,626 | 111,911,749 |
| nsv482162 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | Second Pass | NC_000011.9 | Chr11 | 111,779,350 | 111,782,473 |
| nsv482162 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_003871080.1 | Chr11|NW_0 03871080.1 | 160,617 | 163,740 |
| nsv482162 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000011.8 | Chr11 | 111,284,560 | 111,287,683 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv558523 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv558523 | Remapped | Perfect | NC_000011.10:g.(11 1908626_?)_(?_1119 11749)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 111,908,626 | 111,911,749 |
| nssv558523 | Remapped | Perfect | NW_003871080.1:g.( 160617_?)_(?_16374 0)del | GRCh37.p13 | First Pass | NW_003871080.1 | Chr11|NW_0 03871080.1 | 160,617 | 163,740 |
| nssv558523 | Remapped | Perfect | NC_000011.9:g.(111 779350_?)_(?_11178 2473)del | GRCh37.p13 | Second Pass | NC_000011.9 | Chr11 | 111,779,350 | 111,782,473 |
| nssv558523 | Submitted genomic | NC_000011.8:g.(111 284560_?)_(?_11128 7683)del | NCBI35 (hg17) | NC_000011.8 | Chr11 | 111,284,560 | 111,287,683 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| nssv558523 | 2 | KB1 | Oligo aCGH | Probe signal intensity | Pass |