nsv6635472
- Organism: Homo sapiens
- Study:nstd227 (Kikas 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:226,356
- Publication(s):Kikas 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: 861 SVs from 71 studies. See in: genome view
Overlapping variant regions from other studies: 864 SVs from 71 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6635472 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000021.9 | Chr21 | 40,919,752 | 41,146,107 |
| nsv6635472 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000021.8 | Chr21 | 42,291,678 | 42,518,034 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv18327859 | duplication | SNP array | Probe signal intensity |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18327859 | Remapped | Perfect | NC_000021.9:g.(409 19752_?)_(?_411461 07)dup | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 40,919,752 | 41,146,107 |
| nssv18327859 | Submitted genomic | NC_000021.8:g.(422 91678_?)_(?_425180 34)dup | GRCh37 (hg19) | NC_000021.8 | Chr21 | 42,291,678 | 42,518,034 |