nsv5381765
- 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:24,322,071
- Description:GRCh37/hg19 3q22.3-26.1(chr3:138173683-162494699) 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: 56843 SVs from 128 studies. See in: genome view
Overlapping variant regions from other studies: 56861 SVs from 128 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv5381765 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 138,454,841 | 162,776,911 |
| nsv5381765 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 138,173,683 | 162,494,699 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv16867380 | copy number gain | Multiple | Multiple | Global developmental delay; Global developmental delay | Pathogenic | ClinVar | RCV001352648.1, VCV001047879.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16867380 | Remapped | Good | NC_000003.12:g.(?_ 138454841)_(162776 911_?)dup | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 138,454,841 | 162,776,911 |
| nssv16867380 | Submitted genomic | NC_000003.11:g.(?_ 138173683)_(162494 699_?)dup | GRCh37 (hg19) | NC_000003.11 | Chr3 | 138,173,683 | 162,494,699 |
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 |
|---|---|---|---|---|---|---|---|
| nssv16867380 | GRCh37: NC_000003.11:g.(?_138173683)_(162494699_?)dup | copy number gain | de novo | Global developmental delay; Global developmental delay | Pathogenic | ClinVar | RCV001352648.1, VCV001047879.1 |