nsv5381802
- 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:25,852,934
- Description:GRCh37/hg19 18q21.2-23(chr18:51925586-78010032) AND Global developmental delay
- Publication(s):Manickam et al. 2021, Michelson et al. 2011
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 84391 SVs from 134 studies. See in: genome view
Overlapping variant regions from other studies: 84255 SVs from 134 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv5381802 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000018.10 | Chr18 | 54,399,216 | 80,252,149 |
| nsv5381802 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000018.9 | Chr18 | 51,925,586 | 78,010,032 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv16867398 | copy number gain | Multiple | Multiple | Global developmental delay; Global developmental delay | Pathogenic | ClinVar | RCV001352665.1, VCV001047896.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16867398 | Remapped | Good | NC_000018.10:g.(?_ 54399216)_(8025214 9_?)dup | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 54,399,216 | 80,252,149 |
| nssv16867398 | Submitted genomic | NC_000018.9:g.(?_5 1925586)_(78010032 _?)dup | GRCh37 (hg19) | NC_000018.9 | Chr18 | 51,925,586 | 78,010,032 |
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 |
|---|---|---|---|---|---|---|---|
| nssv16867398 | GRCh37: NC_000018.9:g.(?_51925586)_(78010032_?)dup | copy number gain | de novo | Global developmental delay; Global developmental delay | Pathogenic | ClinVar | RCV001352665.1, VCV001047896.1 |