nsv6289996
- 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:38,177,623
- Description:
GRCh37/hg19 21p13-q22.3(chr21:1-48129895)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: 113260 SVs from 143 studies. See in: genome view
Overlapping variant regions from other studies: 113164 SVs from 143 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nsv6289996 | Remapped | Pass | GRCh38.p12 | Primary Assembly | First Pass | NC_000021.9 | Chr21 | - | 8,522,361 | 46,699,983 | - |
| nsv6289996 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000021.8 | Chr21 | 1 | - | - | 48,129,895 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv17955538 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV001780078.1, VCV001321998.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nssv17955538 | Remapped | Pass | NC_000021.9:g.(?_8 522361)_(46699983_ ?)dup | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | - | 8,522,361 | 46,699,983 | - |
| nssv17955538 | Submitted genomic | NC_000021.8:g.(1_? )_(?_48129895)dup | GRCh37 (hg19) | NC_000021.8 | Chr21 | 1 | - | - | 48,129,895 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv17955538 | GRCh37: NC_000021.8:g.(1_?)_(?_48129895)dup | copy number gain | unknown | See cases | Pathogenic | ClinVar | RCV001780078.1, VCV001321998.1 | 3 |