nsv2757585
- Organism: Homo sapiens
- Study:nstd130 (Leppa et al. 2016)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:72,875
- Publication(s):Leppa et al. 2016
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: 1065 SVs from 75 studies. See in: genome view
Overlapping variant regions from other studies: 1029 SVs from 79 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv2757585 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000021.9 | Chr21 | 10,638,005 | 10,710,879 |
| nsv2757585 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000021.8 | Chr21 | 10,801,578 | 10,874,452 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv13628157 | deletion | SNP array | Probe signal intensity |
| nssv13628158 | duplication | SNP array | Probe signal intensity |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv13628157 | Remapped | Perfect | NC_000021.9:g.(?_1 0638005)_(10710879 _?)del | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 10,638,005 | 10,710,879 |
| nssv13628158 | Remapped | Perfect | NC_000021.9:g.(?_1 0638005)_(10710879 _?)dup | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 10,638,005 | 10,710,879 |
| nssv13628157 | Submitted genomic | NC_000021.8:g.(?_1 0801578)_(10874452 _?)del | GRCh37 (hg19) | NC_000021.8 | Chr21 | 10,801,578 | 10,874,452 | ||
| nssv13628158 | Submitted genomic | NC_000021.8:g.(?_1 0801578)_(10874452 _?)dup | GRCh37 (hg19) | NC_000021.8 | Chr21 | 10,801,578 | 10,874,452 |