nsv4676412
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:349,297
- Description:GRCh37/hg19 21q22.13(chr21:38137049-38486344)x1 AND not provided
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 1053 SVs from 65 studies. See in: genome view
Overlapping variant regions from other studies: 1053 SVs from 65 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4676412 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000021.9 | Chr21 | 36,764,748 | 37,114,044 |
| nsv4676412 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000021.8 | Chr21 | 38,137,049 | 38,486,344 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16208582 | copy number loss | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV001007130.1, VCV000816164.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16208582 | Remapped | Perfect | NC_000021.9:g.(?_3 6764748)_(37114044 _?)del | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 36,764,748 | 37,114,044 |
| nssv16208582 | Submitted genomic | NC_000021.8:g.(?_3 8137049)_(38486344 _?)del | GRCh37 (hg19) | NC_000021.8 | Chr21 | 38,137,049 | 38,486,344 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16208582 | GRCh37: NC_000021.8:g.(?_38137049)_(38486344_?)del | copy number loss | germline | not provided | Uncertain significance | ClinVar | RCV001007130.1, VCV000816164.1 | 1 |