nsv5381338
- 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:16,155,070
- Description:GRCh37/hg19 2q21.3-23.3(chr2:136473383-152727396) AND multiple conditions
- Publication(s):Manickam et al. 2021, Michelson et al. 2011, Mintz et al. 2021
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 36319 SVs from 134 studies. See in: genome view
Overlapping variant regions from other studies: 36326 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv5381338 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 135,715,813 | 151,870,882 |
| nsv5381338 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 136,473,383 | 152,727,396 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv16867392 | copy number gain | Multiple | Multiple | Global developmental delay; Global developmental delay; Short stature; Short stature; Strabismus; Strabismus | Pathogenic | ClinVar | RCV001352659.1, VCV001047890.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16867392 | Remapped | Good | NC_000002.12:g.(?_ 135715813)_(151870 882_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 135,715,813 | 151,870,882 |
| nssv16867392 | Submitted genomic | NC_000002.11:g.(?_ 136473383)_(152727 396_?)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 136,473,383 | 152,727,396 |
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 |
|---|---|---|---|---|---|---|---|
| nssv16867392 | GRCh37: NC_000002.11:g.(?_136473383)_(152727396_?)dup | copy number gain | de novo | Global developmental delay; Global developmental delay; Short stature; Short stature; Strabismus; Strabismus | Pathogenic | ClinVar | RCV001352659.1, VCV001047890.1 |