nsv4768373
- 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:8,432,512
- Description:GRCh37/hg19 11p15.5-15.4(chr11:210300-8664358)x3 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: 32651 SVs from 140 studies. See in: genome view
Overlapping variant regions from other studies: 32303 SVs from 140 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4768373 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 210,300 | 8,642,811 |
| nsv4768373 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 210,300 | 8,664,358 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16296941 | copy number gain | Multiple | Multiple | SILVER-RUSSELL SYNDROME 1; SILVER-RUSSELL SYNDROME 1; SRS1; Silver-Russell Syndrome; Silver-Russell syndrome | Pathogenic | ClinVar | RCV001263222.1, VCV000981209.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16296941 | Remapped | Good | NC_000011.10:g.(?_ 210300)_(8642811_? )dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 210,300 | 8,642,811 |
| nssv16296941 | Submitted genomic | NC_000011.9:g.(?_2 10300)_(8664358_?) dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 210,300 | 8,664,358 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16296941 | GRCh37: NC_000011.9:g.(?_210300)_(8664358_?)dup | copy number gain | germline | SILVER-RUSSELL SYNDROME 1; SILVER-RUSSELL SYNDROME 1; SRS1; Silver-Russell Syndrome; Silver-Russell syndrome | Pathogenic | ClinVar | RCV001263222.1, VCV000981209.1 | 3 |