nsv4684421
- Organism: Homo sapiens
- Study:nstd192 (Smajlagić et al. 2020)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1,556,305
- Publication(s):Smajlagic 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: 5920 SVs from 127 studies. See in: genome view
Overlapping variant regions from other studies: 3472 SVs from 101 studies. See in: genome view
Overlapping variant regions from other studies: 3698 SVs from 103 studies. See in: genome view
Overlapping variant regions from other studies: 5920 SVs from 127 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4684421 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000015.10 | Chr15 | 30,666,732 | 32,222,900 |
| nsv4684421 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_2 | Second Pass | NT_187660.1 | Chr15|NT_1 87660.1 | 2,952,269 | 4,508,573 |
| nsv4684421 | Remapped | Good | GRCh38.p12 | PATCHES | Second Pass | NW_011332701.1 | Chr15|NW_0 11332701.1 | 2,839,817 | 4,396,121 |
| nsv4684421 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000015.9 | Chr15 | 30,958,935 | 32,515,101 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis |
|---|---|---|---|---|
| nssv16215362 | duplication | mb2:o35 | SNP array | SNP genotyping analysis |
| nssv16215373 | deletion | mb2:o4 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv16215362 | Remapped | Good | NT_187660.1:g.(?_2 952269)_(4508573_? )dup | GRCh38.p12 | Second Pass | NT_187660.1 | Chr15|NT_1 87660.1 | 2,952,269 | 4,508,573 |
| nssv16215373 | Remapped | Good | NT_187660.1:g.(?_2 952269)_(4508573_? )del | GRCh38.p12 | Second Pass | NT_187660.1 | Chr15|NT_1 87660.1 | 2,952,269 | 4,508,573 |
| nssv16215362 | Remapped | Good | NW_011332701.1:g.( ?_2839817)_(439612 1_?)dup | GRCh38.p12 | Second Pass | NW_011332701.1 | Chr15|NW_0 11332701.1 | 2,839,817 | 4,396,121 |
| nssv16215373 | Remapped | Good | NW_011332701.1:g.( ?_2839817)_(439612 1_?)del | GRCh38.p12 | Second Pass | NW_011332701.1 | Chr15|NW_0 11332701.1 | 2,839,817 | 4,396,121 |
| nssv16215362 | Remapped | Perfect | NC_000015.10:g.(?_ 30666732)_(3222290 0_?)dup | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 30,666,732 | 32,222,900 |
| nssv16215373 | Remapped | Perfect | NC_000015.10:g.(?_ 30666732)_(3222290 0_?)del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 30,666,732 | 32,222,900 |
| nssv16215362 | Submitted genomic | NC_000015.9:g.(?_3 0958935)_(32515101 _?)dup | GRCh37 (hg19) | NC_000015.9 | Chr15 | 30,958,935 | 32,515,101 | ||
| nssv16215373 | Submitted genomic | NC_000015.9:g.(?_3 0958935)_(32515101 _?)del | GRCh37 (hg19) | NC_000015.9 | Chr15 | 30,958,935 | 32,515,101 |