nsv4454648
- 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:12,862,654
- Description:GRCh37/hg19 2q31.1-32.1(chr2:173538954-186401606)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: 30203 SVs from 129 studies. See in: genome view
Overlapping variant regions from other studies: 30204 SVs from 129 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4454648 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 172,674,226 | 185,536,879 |
| nsv4454648 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 173,538,954 | 186,401,606 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15774888 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV000846537.2, VCV000685829.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15774888 | Remapped | Perfect | NC_000002.12:g.(?_ 172674226)_(185536 879_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 172,674,226 | 185,536,879 |
| nssv15774888 | Submitted genomic | NC_000002.11:g.(?_ 173538954)_(186401 606_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 173,538,954 | 186,401,606 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15774888 | GRCh37: NC_000002.11:g.(?_173538954)_(186401606_?)del | copy number loss | unknown | not provided | Pathogenic | ClinVar | RCV000846537.2, VCV000685829.2 | 1 |