nsv1161189
- Organism: Homo sapiens
- Study:nstd111 (Lou et al. 2015)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:26,923
- Publication(s):Lou et al. 2015
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: 379 SVs from 60 studies. See in: genome view
Overlapping variant regions from other studies: 320 SVs from 60 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nsv1161189 | Remapped | Good | GRCh38.p12 | Primary Assembly | Second Pass | NC_000001.11 | Chr1 | 13,339,160 | 13,339,160 | 13,366,082 | 13,366,082 |
| nsv1161189 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 13,444,682 | 13,444,908 | 13,468,022 | 13,471,704 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Copy number |
|---|---|---|---|---|
| nssv4029517 | deletion | SNP array | Probe signal intensity | 0 |
| nssv4029547 | duplication | SNP array | Probe signal intensity | 4 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nssv4029517 | Remapped | Good | NC_000001.11:g.(13 339160_13339160)_( 13366082_13366082) del | GRCh38.p12 | Second Pass | NC_000001.11 | Chr1 | 13,339,160 | 13,339,160 | 13,366,082 | 13,366,082 |
| nssv4029547 | Remapped | Good | NC_000001.11:g.(13 339160_13339160)_( 13366082_13366082) dup | GRCh38.p12 | Second Pass | NC_000001.11 | Chr1 | 13,339,160 | 13,339,160 | 13,366,082 | 13,366,082 |
| nssv4029517 | Submitted genomic | NC_000001.10:g.(13 444682_13444908)_( 13468022_13471704) del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 13,444,682 | 13,444,908 | 13,468,022 | 13,471,704 | ||
| nssv4029547 | Submitted genomic | NC_000001.10:g.(13 444682_13444908)_( 13468022_13471704) dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 13,444,682 | 13,444,908 | 13,468,022 | 13,471,704 |