nsv4350476
- 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:12,428,444
- Description:GRCh37/hg19 11p15.5-15.3(chr11:193146-12643136) AND Silver-Russell syndrome 1
- Publication(s):Del Gaudio et al. 2020, Saal et al. 2002
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 43061 SVs from 143 studies. See in: genome view
Overlapping variant regions from other studies: 42713 SVs from 143 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4350476 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 193,146 | 12,621,589 |
| nsv4350476 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 193,146 | 12,643,136 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15605781 | copy number gain | Multiple | Multiple | SILVER-RUSSELL SYNDROME 1; SILVER-RUSSELL SYNDROME 1; SRS1; Silver-Russell Syndrome; Silver-Russell syndrome | Pathogenic | ClinVar | RCV000767567.1, VCV000625559.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15605781 | Remapped | Good | NC_000011.10:g.(?_ 193146)_(12621589_ ?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 193,146 | 12,621,589 |
| nssv15605781 | Submitted genomic | NC_000011.9:g.(?_1 93146)_(12643136_? )dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 193,146 | 12,643,136 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15605781 | GRCh37: NC_000011.9:g.(?_193146)_(12643136_?)dup | copy number gain | de novo | SILVER-RUSSELL SYNDROME 1; SILVER-RUSSELL SYNDROME 1; SRS1; Silver-Russell Syndrome; Silver-Russell syndrome | Pathogenic | ClinVar | RCV000767567.1, VCV000625559.1 |