nsv6627587
- 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:32,434
- 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: 638 SVs from 68 studies. See in: genome view
Overlapping variant regions from other studies: 153 SVs from 38 studies. See in: genome view
Overlapping variant regions from other studies: 640 SVs from 70 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6627587 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 241,821,357 | 241,853,790 |
| nsv6627587 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187527.1 | Chr2|NT_18 7527.1 | 33,455 | 65,888 |
| nsv6627587 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 242,763,542 | 242,795,942 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18286875 | deletion | OSC0030 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv18286875 | Remapped | Good | NT_187527.1:g.(?_3 3455)_(65888_?)del | GRCh38.p12 | Second Pass | NT_187527.1 | Chr2|NT_18 7527.1 | 33,455 | 65,888 |
| nssv18286875 | Remapped | Good | NC_000002.12:g.(?_ 241821357)_(241853 790_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 241,821,357 | 241,853,790 |
| nssv18286875 | Submitted genomic | NC_000002.11:g.(?_ 242763542)_(242795 942_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 242,763,542 | 242,795,942 |