nsv4678813
- 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:371,623
- 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: 2613 SVs from 105 studies. See in: genome view
Overlapping variant regions from other studies: 687 SVs from 62 studies. See in: genome view
Overlapping variant regions from other studies: 2965 SVs from 112 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4678813 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000015.10 | Chr15 | 22,724,895 | 23,096,517 |
| nsv4678813 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187603.1 | Chr15|NT_1 87603.1 | 1 | 196,676 |
| nsv4678813 | Submitted genomic | GRCh37.p13 | Primary Assembly | NC_000015.9 | Chr15 | 22,776,551 | 23,148,210 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16211767 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv16211767 | Remapped | Pass | NT_187603.1:g.(?_1 )_(196676_?)del | GRCh38.p12 | Second Pass | NT_187603.1 | Chr15|NT_1 87603.1 | 1 | 196,676 |
| nssv16211767 | Remapped | Good | NC_000015.10:g.(?_ 22724895)_(2309651 7_?)del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 22,724,895 | 23,096,517 |
| nssv16211767 | Submitted genomic | NC_000015.9:g.(?_2 2776551)_(23148210 _?)del | GRCh37.p13 | NC_000015.9 | Chr15 | 22,776,551 | 23,148,210 |
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) |
|---|---|---|---|
| nssv16211767 | 3.08112604886666e-06 | 3 | 973670 |