nsv6621002
- 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:190,799
- 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: 599 SVs from 62 studies. See in: genome view
Overlapping variant regions from other studies: 204 SVs from 26 studies. See in: genome view
Overlapping variant regions from other studies: 601 SVs from 62 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6621002 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 56,252,294 | 56,443,092 |
| nsv6621002 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NW_003871073.1 | Chr11|NW_0 03871073.1 | 63,043 | 187,300 |
| nsv6621002 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 56,019,770 | 56,210,568 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18300037 | deletion | OSC5334 | SNP array | Probe signal intensity | 5 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18300037 | Remapped | Pass | NW_003871073.1:g.( ?_63043)_(187300_? )del | GRCh38.p12 | Second Pass | NW_003871073.1 | Chr11|NW_0 03871073.1 | 63,043 | 187,300 |
| nssv18300037 | Remapped | Perfect | NC_000011.10:g.(?_ 56252294)_(5644309 2_?)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 56,252,294 | 56,443,092 |
| nssv18300037 | Submitted genomic | NC_000011.9:g.(?_5 6019770)_(56210568 _?)del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 56,019,770 | 56,210,568 |