nsv3920431
- 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:16,062,864
- Description:GRCh38/hg38 21q11.2-21.3(chr21:13194345-29257208)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: 48481 SVs from 134 studies. See in: genome view
Overlapping variant regions from other studies: 48460 SVs from 134 studies. See in: genome view
Overlapping variant regions from other studies: 14082 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 |
|---|---|---|---|---|---|---|---|
| nsv3920431 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000021.9 | Chr21 | 13,194,345 | 29,257,208 |
| nsv3920431 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000021.8 | Chr21 | 14,566,666 | 30,629,529 |
| nsv3920431 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000021.7 | Chr21 | 13,488,537 | 29,551,400 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15134325 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000052798.5, VCV000059004.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15134325 | Submitted genomic | NC_000021.9:g.(?_1 3194345)_(29257208 _?)del | GRCh38 (hg38) | NC_000021.9 | Chr21 | 13,194,345 | 29,257,208 |
| nssv15134325 | Submitted genomic | NC_000021.8:g.(?_1 4566666)_(30629529 _?)del | GRCh37 (hg19) | NC_000021.8 | Chr21 | 14,566,666 | 30,629,529 |
| nssv15134325 | Submitted genomic | NC_000021.7:g.(?_1 3488537)_(29551400 _?)del | NCBI36 (hg18) | NC_000021.7 | Chr21 | 13,488,537 | 29,551,400 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15134325 | GRCh37: NC_000021.8:g.(?_14566666)_(30629529_?)del, GRCh38: NC_000021.9:g.(?_13194345)_(29257208_?)del, NCBI36: NC_000021.7:g.(?_13488537)_(29551400_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000052798.5, VCV000059004.1 | 1 |