nsv4678758
- Organism: Homo sapiens
- Study:nstd190 (Williams et al. 2020)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:375,135
- Publication(s):Williams et al. 2020
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: 2639 SVs from 107 studies. See in: genome view
Overlapping variant regions from other studies: 736 SVs from 65 studies. See in: genome view
Overlapping variant regions from other studies: 3067 SVs from 114 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4678758 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000015.10 | Chr15 | 22,747,637 | 23,122,771 |
| nsv4678758 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187603.1 | Chr15|NT_1 87603.1 | 1 | 223,279 |
| nsv4678758 | Submitted genomic | GRCh37.p13 | Primary Assembly | NC_000015.9 | Chr15 | 22,750,297 | 23,125,469 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16211773 | deletion | SNP array | SNP genotyping analysis |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16211773 | Remapped | Pass | NT_187603.1:g.(?_1 )_(223279_?)del | GRCh38.p12 | Second Pass | NT_187603.1 | Chr15|NT_1 87603.1 | 1 | 223,279 |
| nssv16211773 | Remapped | Good | NC_000015.10:g.(?_ 22747637)_(2312277 1_?)del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 22,747,637 | 23,122,771 |
| nssv16211773 | Submitted genomic | NC_000015.9:g.(?_2 2750297)_(23125469 _?)del | GRCh37.p13 | NC_000015.9 | Chr15 | 22,750,297 | 23,125,469 |
No validation data were submitted for this variant
No clinical assertion data were submitted for this variant
Genotype Information
| Variant Call ID | Allele Frequency (AF) | Allele Count (AC) | Allele Number (AN) |
|---|---|---|---|
| nssv16211773 | <0.001 | 190 | 973670 |