nsv3418828
- Organism: Homo sapiens
- Study:nstd164 (Karolak et al. 2019)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:2,256,948
- Publication(s):Karolak et al. 2019
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: 5881 SVs from 101 studies. See in: genome view
Overlapping variant regions from other studies: 5880 SVs from 101 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nsv3418828 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 60,012,922 | 60,013,295 | 62,269,496 | 62,269,869 |
| nsv3418828 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 58,090,283 | 58,090,656 | 60,346,857 | 60,347,230 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis |
|---|---|---|---|---|
| nssv14814877 | copy number loss | P009 | Oligo aCGH | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nssv14814877 | Remapped | Perfect | NC_000017.11:g.(60 012922_60013295)_( 62269496_62269869) del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 60,012,922 | 60,013,295 | 62,269,496 | 62,269,869 |
| nssv14814877 | Submitted genomic | NC_000017.10:g.(58 090283_58090656)_( 60346857_60347230) del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 58,090,283 | 58,090,656 | 60,346,857 | 60,347,230 |