nsv4684431
- Organism: Homo sapiens
- Study:nstd192 (Smajlagić 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:1,380,360
- 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: 4231 SVs from 103 studies. See in: genome view
Overlapping variant regions from other studies: 3634 SVs from 93 studies. See in: genome view
Overlapping variant regions from other studies: 4558 SVs from 109 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4684431 | Remapped | Good | GRCh38.p12 | Primary Assembly | Second Pass | NC_000017.11 | Chr17 | 36,459,736 | 37,836,317 |
| nsv4684431 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_1 | First Pass | NT_187614.1 | Chr17|NT_1 87614.1 | 694,640 | 2,074,999 |
| nsv4684431 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 34,815,550 | 36,195,934 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis |
|---|---|---|---|---|
| nssv16215342 | duplication | mb1:o50 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv16215342 | Remapped | Good | NT_187614.1:g.(?_6 94640)_(2074999_?) dup | GRCh38.p12 | First Pass | NT_187614.1 | Chr17|NT_1 87614.1 | 694,640 | 2,074,999 |
| nssv16215342 | Remapped | Good | NC_000017.11:g.(?_ 36459736)_(3783631 7_?)dup | GRCh38.p12 | Second Pass | NC_000017.11 | Chr17 | 36,459,736 | 37,836,317 |
| nssv16215342 | Submitted genomic | NC_000017.10:g.(?_ 34815550)_(3619593 4_?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 34,815,550 | 36,195,934 |