nsv6626913
- 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:271,907
- 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: 2187 SVs from 105 studies. See in: genome view
Overlapping variant regions from other studies: 2207 SVs from 105 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6626913 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000022.11 | Chr22 | 21,958,507 | 22,230,413 |
| nsv6626913 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000022.10 | Chr22 | 22,312,879 | 22,584,809 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18287459 | deletion | OSC3135 | SNP array | Probe signal intensity | 5 |
| nssv18305880 | duplication | OSC0671 | SNP array | Probe signal intensity | nssv18305313, nssv18306193, nssv18306198 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18287459 | Remapped | Good | NC_000022.11:g.(?_ 21958507)_(2223041 3_?)del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 21,958,507 | 22,230,413 |
| nssv18305880 | Remapped | Good | NC_000022.11:g.(?_ 21958507)_(2223041 3_?)dup | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 21,958,507 | 22,230,413 |
| nssv18287459 | Submitted genomic | NC_000022.10:g.(?_ 22312879)_(2258480 9_?)del | GRCh37 (hg19) | NC_000022.10 | Chr22 | 22,312,879 | 22,584,809 | ||
| nssv18305880 | Submitted genomic | NC_000022.10:g.(?_ 22312879)_(2258480 9_?)dup | GRCh37 (hg19) | NC_000022.10 | Chr22 | 22,312,879 | 22,584,809 |