nsv6632909
- Organism: Homo sapiens
- Study:nstd224 (Zarrei et al. 2023)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:25,945
- 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: 205 SVs from 35 studies. See in: genome view
Overlapping variant regions from other studies: 205 SVs from 35 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6632909 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 75,286,004 | 75,311,948 |
| nsv6632909 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 76,198,239 | 76,224,183 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18294520 | duplication | OSC4450 | SNP array | Probe signal intensity | 5 |
| nssv18300461 | duplication | OSC5440 | SNP array | Probe signal intensity | nssv18300807, nssv18300462, nssv18300460 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18294520 | Remapped | Perfect | NC_000008.11:g.(?_ 75286004)_(7531194 8_?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 75,286,004 | 75,311,948 |
| nssv18300461 | Remapped | Perfect | NC_000008.11:g.(?_ 75286004)_(7531194 8_?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 75,286,004 | 75,311,948 |
| nssv18294520 | Submitted genomic | NC_000008.10:g.(?_ 76198239)_(7622418 3_?)dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 76,198,239 | 76,224,183 | ||
| nssv18300461 | Submitted genomic | NC_000008.10:g.(?_ 76198239)_(7622418 3_?)dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 76,198,239 | 76,224,183 |