nsv4684423
- Organism: Homo sapiens
- Study:nstd192 (Smajlagić et al. 2020)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:184,886
- Publication(s):Smajlagic et al. 2020
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: 1050 SVs from 81 studies. See in: genome view
Overlapping variant regions from other studies: 1050 SVs from 81 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4684423 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000016.10 | Chr16 | 28,848,540 | 29,033,425 |
| nsv4684423 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000016.9 | Chr16 | 28,859,861 | 29,044,746 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis |
|---|---|---|---|---|
| nssv16215375 | deletion | mb2:o14 | SNP array | SNP genotyping analysis |
| nssv16215376 | deletion | mb2:o5 | SNP array | SNP genotyping analysis |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16215375 | Remapped | Perfect | NC_000016.10:g.(?_ 28848540)_(2903342 5_?)del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 28,848,540 | 29,033,425 |
| nssv16215376 | Remapped | Perfect | NC_000016.10:g.(?_ 28848540)_(2903342 5_?)del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 28,848,540 | 29,033,425 |
| nssv16215375 | Submitted genomic | NC_000016.9:g.(?_2 8859861)_(29044746 _?)del | GRCh37 (hg19) | NC_000016.9 | Chr16 | 28,859,861 | 29,044,746 | ||
| nssv16215376 | Submitted genomic | NC_000016.9:g.(?_2 8859861)_(29044746 _?)del | GRCh37 (hg19) | NC_000016.9 | Chr16 | 28,859,861 | 29,044,746 |