nsv4454457
- 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:2,020,874
- Description:NC_000001.10:g.(?_955543)_(2957600_?)del AND Shprintzen-Goldberg syndrome
- Publication(s):Greally et al. 2006
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 12413 SVs from 120 studies. See in: genome view
Overlapping variant regions from other studies: 12405 SVs from 120 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4454457 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 1,020,163 | 3,041,036 |
| nsv4454457 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 955,543 | 2,957,600 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15774077 | deletion | Multiple | Multiple | SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME; SGS; Shprintzen-Goldberg Syndrome; Shprintzen-Goldberg syndrome; Shprintzen-Goldberg syndrome | Uncertain significance | ClinVar | RCV000816642.1, VCV000659614.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15774077 | Remapped | Good | NC_000001.11:g.(?_ 1020163)_(3041036_ ?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 1,020,163 | 3,041,036 |
| nssv15774077 | Submitted genomic | NC_000001.10:g.(?_ 955543)_(2957600_? )del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 955,543 | 2,957,600 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15774077 | GRCh37: NC_000001.10:g.(?_955543)_(2957600_?)del | deletion | germline | SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME; SGS; Shprintzen-Goldberg Syndrome; Shprintzen-Goldberg syndrome; Shprintzen-Goldberg syndrome | Uncertain significance | ClinVar | RCV000816642.1, VCV000659614.1 |