nsv4380265
- Organism: Homo sapiens
- Study:nstd173 (Zarrei et al. 2019)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:140,988
- Publication(s):Zarrei et al. 2019
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: 554 SVs from 65 studies. See in: genome view
Overlapping variant regions from other studies: 554 SVs from 65 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4380265 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000020.11 | Chr20 | 4,740,306 | 4,881,293 |
| nsv4380265 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000020.10 | Chr20 | 4,720,952 | 4,861,939 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv15646571 | copy number gain | 2-1268-003 | SNP array | Genotyping | 15 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15646571 | Remapped | Perfect | NC_000020.11:g.(?_ 4740306)_(4881293_ ?)dup | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 4,740,306 | 4,881,293 |
| nssv15646571 | Submitted genomic | NC_000020.10:g.(?_ 4720952)_(4861939_ ?)dup | GRCh37 (hg19) | NC_000020.10 | Chr20 | 4,720,952 | 4,861,939 |