nsv3897196
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, NCBI36
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:6,181,886
- Description:GRCh37/hg19 21q21.3-22.12(chr21:29880468-36062331)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: 16586 SVs from 115 studies. See in: genome view
Overlapping variant regions from other studies: 16603 SVs from 115 studies. See in: genome view
Overlapping variant regions from other studies: 4655 SVs from 32 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3897196 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000021.9 | Chr21 | 28,508,147 | 34,690,032 |
| nsv3897196 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000021.8 | Chr21 | 29,880,468 | 36,062,331 | ||
| nsv3897196 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000021.7 | Chr21 | 28,802,339 | 34,984,201 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15137471 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000141575.3, VCV000153076.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15137471 | Remapped | Perfect | NC_000021.9:g.(?_2 8508147)_(34690032 _?)del | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 28,508,147 | 34,690,032 |
| nssv15137471 | Submitted genomic | NC_000021.8:g.(?_2 9880468)_(36062331 _?)del | GRCh37 (hg19) | NC_000021.8 | Chr21 | 29,880,468 | 36,062,331 | ||
| nssv15137471 | Submitted genomic | NC_000021.7:g.(?_2 8802339)_(34984201 _?)del | NCBI36 (hg18) | NC_000021.7 | Chr21 | 28,802,339 | 34,984,201 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15137471 | GRCh37: NC_000021.8:g.(?_29880468)_(36062331_?)del, NCBI36: NC_000021.7:g.(?_28802339)_(34984201_?)del | copy number loss | de novo | See cases | Pathogenic | ClinVar | RCV000141575.3, VCV000153076.1 | 1 |