nsv4676235
- 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:733,332
- Description:GRCh37/hg19 18q21.31(chr18:54552231-55285563)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: 2126 SVs from 93 studies. See in: genome view
Overlapping variant regions from other studies: 2126 SVs from 93 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4676235 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000018.10 | Chr18 | 56,885,000 | 57,618,331 |
| nsv4676235 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000018.9 | Chr18 | 54,552,231 | 55,285,563 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16208990 | copy number loss | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV001006984.1, VCV000816018.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16208990 | Remapped | Perfect | NC_000018.10:g.(?_ 56885000)_(5761833 1_?)del | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 56,885,000 | 57,618,331 |
| nssv16208990 | Submitted genomic | NC_000018.9:g.(?_5 4552231)_(55285563 _?)del | GRCh37 (hg19) | NC_000018.9 | Chr18 | 54,552,231 | 55,285,563 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16208990 | GRCh37: NC_000018.9:g.(?_54552231)_(55285563_?)del | copy number loss | germline | not provided | Uncertain significance | ClinVar | RCV001006984.1, VCV000816018.1 | 1 |