nsv3912629
- 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:5,298,778
- Description:GRCh38/hg38 21q22.13-22.3(chr21:37135738-42434515)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: 15861 SVs from 114 studies. See in: genome view
Overlapping variant regions from other studies: 15863 SVs from 114 studies. See in: genome view
Overlapping variant regions from other studies: 4458 SVs from 31 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3912629 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000021.9 | Chr21 | 37,135,738 | 42,434,515 |
| nsv3912629 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000021.8 | Chr21 | 38,508,038 | 43,854,625 |
| nsv3912629 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000021.7 | Chr21 | 37,429,908 | 42,727,694 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15146334 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000051047.4, VCV000057360.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15146334 | Submitted genomic | NC_000021.9:g.(?_3 7135738)_(42434515 _?)del | GRCh38 (hg38) | NC_000021.9 | Chr21 | 37,135,738 | 42,434,515 |
| nssv15146334 | Submitted genomic | NC_000021.8:g.(?_3 8508038)_(43854625 _?)del | GRCh37 (hg19) | NC_000021.8 | Chr21 | 38,508,038 | 43,854,625 |
| nssv15146334 | Submitted genomic | NC_000021.7:g.(?_3 7429908)_(42727694 _?)del | NCBI36 (hg18) | NC_000021.7 | Chr21 | 37,429,908 | 42,727,694 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15146334 | GRCh37: NC_000021.8:g.(?_38508038)_(43854625_?)del, GRCh38: NC_000021.9:g.(?_37135738)_(42434515_?)del, NCBI36: NC_000021.7:g.(?_37429908)_(42727694_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000051047.4, VCV000057360.1 | 1 |