nsv4676321
- 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:6,007,293
- Description:GRCh37/hg19 21q22.2-22.3(chr21:42044877-48100155)x3 AND See cases
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 26375 SVs from 122 studies. See in: genome view
Overlapping variant regions from other studies: 26457 SVs from 122 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4676321 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000021.9 | Chr21 | 40,672,951 | 46,680,243 |
| nsv4676321 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000021.8 | Chr21 | 42,044,877 | 48,100,155 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16209034 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV001007433.1, VCV000816508.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16209034 | Remapped | Good | NC_000021.9:g.(?_4 0672951)_(46680243 _?)dup | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 40,672,951 | 46,680,243 |
| nssv16209034 | Submitted genomic | NC_000021.8:g.(?_4 2044877)_(48100155 _?)dup | GRCh37 (hg19) | NC_000021.8 | Chr21 | 42,044,877 | 48,100,155 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16209034 | GRCh37: NC_000021.8:g.(?_42044877)_(48100155_?)dup | copy number gain | maternal | See cases | Pathogenic | ClinVar | RCV001007433.1, VCV000816508.1 | 3 |