nsv4684424
- 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:602,670
- 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: 2471 SVs from 95 studies. See in: genome view
Overlapping variant regions from other studies: 2471 SVs from 95 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4684424 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000016.10 | Chr16 | 29,584,161 | 30,186,830 |
| nsv4684424 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000016.9 | Chr16 | 29,595,482 | 30,198,151 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis |
|---|---|---|---|---|
| nssv16215340 | duplication | mb1:o46 | SNP array | SNP genotyping analysis |
| nssv16215341 | duplication | mb1:o47 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv16215340 | Remapped | Perfect | NC_000016.10:g.(?_ 29584161)_(3018683 0_?)dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 29,584,161 | 30,186,830 |
| nssv16215341 | Remapped | Perfect | NC_000016.10:g.(?_ 29584161)_(3018683 0_?)dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 29,584,161 | 30,186,830 |
| nssv16215340 | Submitted genomic | NC_000016.9:g.(?_2 9595482)_(30198151 _?)dup | GRCh37 (hg19) | NC_000016.9 | Chr16 | 29,595,482 | 30,198,151 | ||
| nssv16215341 | Submitted genomic | NC_000016.9:g.(?_2 9595482)_(30198151 _?)dup | GRCh37 (hg19) | NC_000016.9 | Chr16 | 29,595,482 | 30,198,151 |