nsv3915265
- 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:12,417,982
- Description:GRCh38/hg38 21q21.1-22.11(chr21:19423169-31841150)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: 37849 SVs from 127 studies. See in: genome view
Overlapping variant regions from other studies: 37796 SVs from 127 studies. See in: genome view
Overlapping variant regions from other studies: 10809 SVs from 35 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3915265 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000021.9 | Chr21 | 19,423,169 | 31,841,150 |
| nsv3915265 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000021.8 | Chr21 | 20,795,486 | 33,213,462 |
| nsv3915265 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000021.7 | Chr21 | 19,717,357 | 32,135,333 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15138316 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000142217.6, VCV000154063.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15138316 | Submitted genomic | NC_000021.9:g.(?_1 9423169)_(31841150 _?)del | GRCh38 (hg38) | NC_000021.9 | Chr21 | 19,423,169 | 31,841,150 |
| nssv15138316 | Submitted genomic | NC_000021.8:g.(?_2 0795486)_(33213462 _?)del | GRCh37 (hg19) | NC_000021.8 | Chr21 | 20,795,486 | 33,213,462 |
| nssv15138316 | Submitted genomic | NC_000021.7:g.(?_1 9717357)_(32135333 _?)del | NCBI36 (hg18) | NC_000021.7 | Chr21 | 19,717,357 | 32,135,333 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15138316 | GRCh37: NC_000021.8:g.(?_20795486)_(33213462_?)del, GRCh38: NC_000021.9:g.(?_19423169)_(31841150_?)del, NCBI36: NC_000021.7:g.(?_19717357)_(32135333_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000142217.6, VCV000154063.2 | 1 |