nsv6627379
- Organism: Homo sapiens
- Study:nstd224 (Zarrei et al. 2023)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37
- Variant Calls:4
- Validation:Not tested
- Clinical Assertions: No
- Region Size:11,790
- 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: 602 SVs from 61 studies. See in: genome view
Overlapping variant regions from other studies: 875 SVs from 86 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6627379 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | First Pass | NT_187633.1 | Chr22|NT_1 87633.1 | 268,428 | 280,217 |
| nsv6627379 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000022.10 | Chr22 | 24,374,253 | 24,386,042 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18316670 | deletion | OSC8323 | SNP array | Probe signal intensity | 13 |
| nssv18317969 | deletion | OSC8390 | SNP array | Probe signal intensity | 8 |
| nssv18319203 | deletion | OSC8617 | SNP array | Probe signal intensity | 10 |
| nssv18320763 | deletion | OSC8854 | SNP array | Probe signal intensity | 11 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18316670 | Remapped | Perfect | NT_187633.1:g.(?_2 68428)_(280217_?)d el | GRCh38.p12 | First Pass | NT_187633.1 | Chr22|NT_1 87633.1 | 268,428 | 280,217 |
| nssv18317969 | Remapped | Perfect | NT_187633.1:g.(?_2 68428)_(280217_?)d el | GRCh38.p12 | First Pass | NT_187633.1 | Chr22|NT_1 87633.1 | 268,428 | 280,217 |
| nssv18319203 | Remapped | Perfect | NT_187633.1:g.(?_2 68428)_(280217_?)d el | GRCh38.p12 | First Pass | NT_187633.1 | Chr22|NT_1 87633.1 | 268,428 | 280,217 |
| nssv18320763 | Remapped | Perfect | NT_187633.1:g.(?_2 68428)_(280217_?)d el | GRCh38.p12 | First Pass | NT_187633.1 | Chr22|NT_1 87633.1 | 268,428 | 280,217 |
| nssv18316670 | Submitted genomic | NC_000022.10:g.(?_ 24374253)_(2438604 2_?)del | GRCh37 (hg19) | NC_000022.10 | Chr22 | 24,374,253 | 24,386,042 | ||
| nssv18317969 | Submitted genomic | NC_000022.10:g.(?_ 24374253)_(2438604 2_?)del | GRCh37 (hg19) | NC_000022.10 | Chr22 | 24,374,253 | 24,386,042 | ||
| nssv18319203 | Submitted genomic | NC_000022.10:g.(?_ 24374253)_(2438604 2_?)del | GRCh37 (hg19) | NC_000022.10 | Chr22 | 24,374,253 | 24,386,042 | ||
| nssv18320763 | Submitted genomic | NC_000022.10:g.(?_ 24374253)_(2438604 2_?)del | GRCh37 (hg19) | NC_000022.10 | Chr22 | 24,374,253 | 24,386,042 |