nsv4383539
- 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:139,609
- 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: 530 SVs from 74 studies. See in: genome view
Overlapping variant regions from other studies: 530 SVs from 74 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4383539 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 44,719,714 | 44,859,322 |
| nsv4383539 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 45,215,162 | 45,354,770 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv15621448 | copy number gain | 1-1017-003 | SNP array | Genotyping | 20 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15621448 | Remapped | Perfect | NC_000010.11:g.(?_ 44719714)_(4485932 2_?)dup | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 44,719,714 | 44,859,322 |
| nssv15621448 | Submitted genomic | NC_000010.10:g.(?_ 45215162)_(4535477 0_?)dup | GRCh37 (hg19) | NC_000010.10 | Chr10 | 45,215,162 | 45,354,770 |