nsv3418823
- Organism: Homo sapiens
- Study:nstd164 (Karolak et al. 2019)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:GRCh37 (hg19)
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:8,613
- 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: 150 SVs from 26 studies. See in: genome view
Overlapping variant regions from other studies: 150 SVs from 26 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nsv3418823 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 61,465,530 | 61,465,533 | 61,474,139 | 61,474,142 |
| nsv3418823 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 59,542,891 | 59,542,894 | 59,551,500 | 59,551,503 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis |
|---|---|---|---|---|
| nssv14814883 | copy number loss | P015 | Oligo aCGH | Curated |
| nssv14814884 | copy number loss | P016 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nssv14814883 | Remapped | Perfect | NC_000017.11:g.(61 465530_61465533)_( 61474139_61474142) del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 61,465,530 | 61,465,533 | 61,474,139 | 61,474,142 |
| nssv14814884 | Remapped | Perfect | NC_000017.11:g.(61 465530_61465533)_( 61474139_61474142) del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 61,465,530 | 61,465,533 | 61,474,139 | 61,474,142 |
| nssv14814883 | Submitted genomic | NC_000017.10:g.(59 542891_59542894)_( 59551500_59551503) del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 59,542,891 | 59,542,894 | 59,551,500 | 59,551,503 | ||
| nssv14814884 | Submitted genomic | NC_000017.10:g.(59 542891_59542894)_( 59551500_59551503) del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 59,542,891 | 59,542,894 | 59,551,500 | 59,551,503 |