nsv6629421
- Organism: Homo sapiens
- Study:nstd224 (Zarrei et al. 2023)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:153,368
- Publication(s):Zarrei et al. 2023
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: 1753 SVs from 88 studies. See in: genome view
Overlapping variant regions from other studies: 480 SVs from 52 studies. See in: genome view
Overlapping variant regions from other studies: 439 SVs from 49 studies. See in: genome view
Overlapping variant regions from other studies: 449 SVs from 49 studies. See in: genome view
Overlapping variant regions from other studies: 1730 SVs from 88 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6629421 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 189,802,233 | 189,951,623 |
| nsv6629421 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_3 | Second Pass | NT_187679.1 | Chr4|NT_18 7679.1 | 450,962 | 555,799 |
| nsv6629421 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187543.1 | Chr4|NT_18 7543.1 | 135,786 | 244,096 |
| nsv6629421 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_2 | Second Pass | NT_187650.1 | Chr4|NT_18 7650.1 | 135,786 | 289,153 |
| nsv6629421 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 190,723,387 | 190,872,778 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18286317 | duplication | OSC2730 | SNP array | Probe signal intensity | nssv18286315, nssv18286316 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18286317 | Remapped | Pass | NT_187679.1:g.(?_4 50962)_(555799_?)d up | GRCh38.p12 | Second Pass | NT_187679.1 | Chr4|NT_18 7679.1 | 450,962 | 555,799 |
| nssv18286317 | Remapped | Pass | NT_187543.1:g.(?_1 35786)_(244096_?)d up | GRCh38.p12 | Second Pass | NT_187543.1 | Chr4|NT_18 7543.1 | 135,786 | 244,096 |
| nssv18286317 | Remapped | Good | NT_187650.1:g.(?_1 35786)_(289153_?)d up | GRCh38.p12 | Second Pass | NT_187650.1 | Chr4|NT_18 7650.1 | 135,786 | 289,153 |
| nssv18286317 | Remapped | Good | NC_000004.12:g.(?_ 189802233)_(189951 623_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 189,802,233 | 189,951,623 |
| nssv18286317 | Submitted genomic | NC_000004.11:g.(?_ 190723387)_(190872 778_?)dup | GRCh37 (hg19) | NC_000004.11 | Chr4 | 190,723,387 | 190,872,778 |