nsv3115130
- Organism: Homo sapiens
- Study:nstd145 (Lu et al. 2017)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:8,687
- Publication(s):Lu et al. 2017
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: 546 SVs from 72 studies. See in: genome view
Overlapping variant regions from other studies: 223 SVs from 50 studies. See in: genome view
Overlapping variant regions from other studies: 372 SVs from 56 studies. See in: genome view
Overlapping variant regions from other studies: 546 SVs from 72 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3115130 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000015.10 | Chr15 | 29,604,951 | 29,613,631 |
| nsv3115130 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_2 | Second Pass | NT_187660.1 | Chr15|NT_1 87660.1 | 1,889,066 | 1,897,752 |
| nsv3115130 | Remapped | Good | GRCh38.p12 | PATCHES | Second Pass | NW_011332701.1 | Chr15|NW_0 11332701.1 | 1,776,582 | 1,785,268 |
| nsv3115130 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000015.9 | Chr15 | 29,897,155 | 29,905,835 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14098133 | deletion | sample391 | Oligo aCGH | Probe signal intensity | 81 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14098133 | Remapped | Good | NT_187660.1:g.(?_1 889066)_(1897752_? )del | GRCh38.p12 | Second Pass | NT_187660.1 | Chr15|NT_1 87660.1 | 1,889,066 | 1,897,752 |
| nssv14098133 | Remapped | Good | NW_011332701.1:g.( ?_1776582)_(178526 8_?)del | GRCh38.p12 | Second Pass | NW_011332701.1 | Chr15|NW_0 11332701.1 | 1,776,582 | 1,785,268 |
| nssv14098133 | Remapped | Perfect | NC_000015.10:g.(?_ 29604951)_(2961363 1_?)del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 29,604,951 | 29,613,631 |
| nssv14098133 | Submitted genomic | NC_000015.9:g.(?_2 9897155)_(29905835 _?)del | GRCh37 (hg19) | NC_000015.9 | Chr15 | 29,897,155 | 29,905,835 |