nsv6627367
- 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:74,638
- 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: 683 SVs from 81 studies. See in: genome view
Overlapping variant regions from other studies: 1100 SVs from 69 studies. See in: genome view
Overlapping variant regions from other studies: 1539 SVs from 103 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6627367 | Remapped | Pass | GRCh38.p12 | Primary Assembly | Second Pass | NC_000022.11 | Chr22 | 23,958,448 | 24,002,279 |
| nsv6627367 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | First Pass | NT_187633.1 | Chr22|NT_1 87633.1 | 194,810 | 269,447 |
| nsv6627367 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000022.10 | Chr22 | 24,300,635 | 24,375,272 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18304745 | duplication | OSC6099 | SNP array | Probe signal intensity | 7 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18304745 | Remapped | Perfect | NT_187633.1:g.(?_1 94810)_(269447_?)d up | GRCh38.p12 | First Pass | NT_187633.1 | Chr22|NT_1 87633.1 | 194,810 | 269,447 |
| nssv18304745 | Remapped | Pass | NC_000022.11:g.(?_ 23958448)_(2400227 9_?)dup | GRCh38.p12 | Second Pass | NC_000022.11 | Chr22 | 23,958,448 | 24,002,279 |
| nssv18304745 | Submitted genomic | NC_000022.10:g.(?_ 24300635)_(2437527 2_?)dup | GRCh37 (hg19) | NC_000022.10 | Chr22 | 24,300,635 | 24,375,272 |