nsv1315509
- Organism: Homo sapiens
- Study:nstd122 (Duyzend 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:44,177
- Publication(s):Duyzend 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: 600 SVs from 78 studies. See in: genome view
Overlapping variant regions from other studies: 600 SVs from 78 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv1315509 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000019.10 | Chr19 | 53,010,320 | 53,054,496 |
| nsv1315509 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 53,513,573 | 53,557,749 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv8635319 | copy number gain | 97_1 | SNP array | Probe signal intensity | 5 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv8635319 | Remapped | Perfect | NC_000019.10:g.(?_ 53010320)_(5305449 6_?)dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 53,010,320 | 53,054,496 |
| nssv8635319 | Submitted genomic | NC_000019.9:g.(?_5 3513573)_(53557749 _?)dup | GRCh37 (hg19) | NC_000019.9 | Chr19 | 53,513,573 | 53,557,749 |