nsv1160800
- Organism: Homo sapiens
- Study:nstd111 (Lou et al. 2015)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:89,848
- 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: 396 SVs from 52 studies. See in: genome view
Overlapping variant regions from other studies: 396 SVs from 52 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nsv1160800 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 53,134,593 | 53,136,368 | 53,220,712 | 53,224,440 |
| nsv1160800 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 53,361,731 | 53,363,506 | 53,447,850 | 53,451,578 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Copy number |
|---|---|---|---|---|
| nssv4026830 | deletion | SNP array | Probe signal intensity | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nssv4026830 | Remapped | Perfect | NC_000002.12:g.(53 134593_53136368)_( 53220712_53224440) del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 53,134,593 | 53,136,368 | 53,220,712 | 53,224,440 |
| nssv4026830 | Submitted genomic | NC_000002.11:g.(53 361731_53363506)_( 53447850_53451578) del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 53,361,731 | 53,363,506 | 53,447,850 | 53,451,578 |