nsv4769393
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:23,481
- Description:GRCh37/hg19 17q25.1(chr17:73926095-73949575)x3 AND not provided
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 184 SVs from 29 studies. See in: genome view
Overlapping variant regions from other studies: 184 SVs from 29 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4769393 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 75,930,014 | 75,953,494 |
| nsv4769393 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 73,926,095 | 73,949,575 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16297069 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV001270663.4, VCV000988933.4 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16297069 | Remapped | Perfect | NC_000017.11:g.759 30014_75953494dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 75,930,014 | 75,953,494 |
| nssv16297069 | Submitted genomic | NC_000017.10:g.739 26095_73949575dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 73,926,095 | 73,949,575 |
No validation data were submitted for this variant
Clinical Assertions
| Variant Call ID | HGVS | Type | Allele Origin | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16297069 | GRCh37: NC_000017.10:g.73926095_73949575dup | copy number gain | unknown | not provided | Uncertain significance | ClinVar | RCV001270663.4, VCV000988933.4 | 3 |