nsv6626177
- 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:323,101
- 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: 925 SVs from 84 studies. See in: genome view
Overlapping variant regions from other studies: 337 SVs from 40 studies. See in: genome view
Overlapping variant regions from other studies: 927 SVs from 84 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6626177 | Remapped | Pass | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 228,366,125 | 228,689,225 |
| nsv6626177 | Remapped | Good | GRCh38.p12 | PATCHES | Second Pass | NW_018654708.1 | Chr1|NW_01 8654708.1 | 1 | 266,227 |
| nsv6626177 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 228,553,826 | 228,824,972 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18300746 | duplication | OSC5403 | SNP array | Probe signal intensity | 9 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18300746 | Remapped | Good | NW_018654708.1:g.( ?_1)_(266227_?)dup | GRCh38.p12 | Second Pass | NW_018654708.1 | Chr1|NW_01 8654708.1 | 1 | 266,227 |
| nssv18300746 | Remapped | Pass | NC_000001.11:g.(?_ 228366125)_(228689 225_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 228,366,125 | 228,689,225 |
| nssv18300746 | Submitted genomic | NC_000001.10:g.(?_ 228553826)_(228824 972_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 228,553,826 | 228,824,972 |