nsv4372204
- 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:56,664
- 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: 212 SVs from 29 studies. See in: genome view
Overlapping variant regions from other studies: 212 SVs from 29 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4372204 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 46,292,892 | 46,349,555 |
| nsv4372204 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 46,520,031 | 46,576,694 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv15628736 | copy number gain | 1-0553-001 | SNP array | Genotyping | 29 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15628736 | Remapped | Perfect | NC_000002.12:g.(?_ 46292892)_(4634955 5_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 46,292,892 | 46,349,555 |
| nssv15628736 | Submitted genomic | NC_000002.11:g.(?_ 46520031)_(4657669 4_?)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 46,520,031 | 46,576,694 |