nsv4729897
- 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:2,159,718
- Description:GRCh37/hg19 22q12.1-12.2(chr22:28291202-30450920)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: 5797 SVs from 101 studies. See in: genome view
Overlapping variant regions from other studies: 5798 SVs from 101 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4729897 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000022.11 | Chr22 | 27,895,214 | 30,054,931 |
| nsv4729897 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000022.10 | Chr22 | 28,291,202 | 30,450,920 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16255032 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV001258778.1, VCV000979602.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16255032 | Remapped | Perfect | NC_000022.11:g.(?_ 27895214)_(3005493 1_?)del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 27,895,214 | 30,054,931 |
| nssv16255032 | Submitted genomic | NC_000022.10:g.(?_ 28291202)_(3045092 0_?)del | GRCh37 (hg19) | NC_000022.10 | Chr22 | 28,291,202 | 30,450,920 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16255032 | GRCh37: NC_000022.10:g.(?_28291202)_(30450920_?)del | copy number loss | germline | not provided | Pathogenic | ClinVar | RCV001258778.1, VCV000979602.1 | 1 |