nsv6290259
- 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:7,914,458
- Description:GRCh37/hg19 3q28-29(chr3:189608636-197532175)x1 AND 3q28q29 deletion syndrome
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 30616 SVs from 136 studies. See in: genome view
Overlapping variant regions from other studies: 30610 SVs from 136 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6290259 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 189,890,847 | 197,805,304 |
| nsv6290259 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 189,608,636 | 197,532,175 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv17955845 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV001786535.2, VCV001326307.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17955845 | Remapped | Good | NC_000003.12:g.(?_ 189890847)_(197805 304_?)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 189,890,847 | 197,805,304 |
| nssv17955845 | Submitted genomic | NC_000003.11:g.(?_ 189608636)_(197532 175_?)del | GRCh37 (hg19) | NC_000003.11 | Chr3 | 189,608,636 | 197,532,175 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv17955845 | GRCh37: NC_000003.11:g.(?_189608636)_(197532175_?)del | copy number loss | de novo | See cases | Pathogenic | ClinVar | RCV001786535.2, VCV001326307.2 | 1 |