nsv4370356
- 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:35,733
- 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: 2386 SVs from 94 studies. See in: genome view
Overlapping variant regions from other studies: 1100 SVs from 59 studies. See in: genome view
Overlapping variant regions from other studies: 2232 SVs from 92 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4370356 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 46,134,944 | 46,170,676 |
| nsv4370356 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_2 | Second Pass | NT_187663.1 | Chr17|NT_1 87663.1 | 837,051 | 872,781 |
| nsv4370356 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 44,212,310 | 44,248,042 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv15699747 | copy number loss | 226265 | SNP array | Genotyping | 20 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15699747 | Remapped | Good | NT_187663.1:g.(?_8 37051)_(872781_?)d el | GRCh38.p12 | Second Pass | NT_187663.1 | Chr17|NT_1 87663.1 | 837,051 | 872,781 |
| nssv15699747 | Remapped | Perfect | NC_000017.11:g.(?_ 46134944)_(4617067 6_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 46,134,944 | 46,170,676 |
| nssv15699747 | Submitted genomic | NC_000017.10:g.(?_ 44212310)_(4424804 2_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 44,212,310 | 44,248,042 |