nsv3921072
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38, NCBI36
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:14,228,705
- Description:GRCh38/hg38 21q11.2-21.3(chr21:13634137-27862841)x1 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: 43634 SVs from 134 studies. See in: genome view
Overlapping variant regions from other studies: 43605 SVs from 134 studies. See in: genome view
Overlapping variant regions from other studies: 12795 SVs from 36 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3921072 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000021.9 | Chr21 | 13,634,137 | 27,862,841 |
| nsv3921072 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000021.8 | Chr21 | 15,006,458 | 29,235,160 |
| nsv3921072 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000021.7 | Chr21 | 13,928,329 | 28,157,031 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15139965 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000143749.5, VCV000155682.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15139965 | Submitted genomic | NC_000021.9:g.(?_1 3634137)_(27862841 _?)del | GRCh38 (hg38) | NC_000021.9 | Chr21 | 13,634,137 | 27,862,841 |
| nssv15139965 | Submitted genomic | NC_000021.8:g.(?_1 5006458)_(29235160 _?)del | GRCh37 (hg19) | NC_000021.8 | Chr21 | 15,006,458 | 29,235,160 |
| nssv15139965 | Submitted genomic | NC_000021.7:g.(?_1 3928329)_(28157031 _?)del | NCBI36 (hg18) | NC_000021.7 | Chr21 | 13,928,329 | 28,157,031 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15139965 | GRCh37: NC_000021.8:g.(?_15006458)_(29235160_?)del, GRCh38: NC_000021.9:g.(?_13634137)_(27862841_?)del, NCBI36: NC_000021.7:g.(?_13928329)_(28157031_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000143749.5, VCV000155682.2 | 1 |