nsv3890829
- 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:3,527
- Description:GRCh37/hg19 21q22.3(chr21:43350199-43353725)x0 AND not provided
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 274 SVs from 50 studies. See in: genome view
Overlapping variant regions from other studies: 275 SVs from 50 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3890829 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000021.9 | Chr21 | 41,930,090 | 41,933,616 |
| nsv3890829 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000021.8 | Chr21 | 43,350,199 | 43,353,725 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15161248 | copy number loss | Multiple | Multiple | not provided | Benign | ClinVar | RCV000741588.2, VCV000604952.2 | 0 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15161248 | Remapped | Perfect | NC_000021.9:g.(?_4 1930090)_(41933616 _?)del | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 41,930,090 | 41,933,616 |
| nssv15161248 | Submitted genomic | NC_000021.8:g.(?_4 3350199)_(43353725 _?)del | GRCh37 (hg19) | NC_000021.8 | Chr21 | 43,350,199 | 43,353,725 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15161248 | GRCh37: NC_000021.8:g.(?_43350199)_(43353725_?)del | copy number loss | unknown | not provided | Benign | ClinVar | RCV000741588.2, VCV000604952.2 | 0 |