nsv7137150
- 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:2,788,507
- Description:GRCh37/hg19 22q11.21(chr22:18893888-21481925)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: 9969 SVs from 131 studies. See in: genome view
Overlapping variant regions from other studies: 9319 SVs from 128 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv7137150 | Remapped | Pass | GRCh38.p12 | Primary Assembly | First Pass | NC_000022.11 | Chr22 | 18,339,130 | 21,127,636 |
| nsv7137150 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000022.10 | Chr22 | 18,893,888 | 21,481,925 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv18830700 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV003312569.1, VCV002571168.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18830700 | Remapped | Pass | NC_000022.11:g.(?_ 18339130)_(2112763 6_?)del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 18,339,130 | 21,127,636 |
| nssv18830700 | Submitted genomic | NC_000022.10:g.(?_ 18893888)_(2148192 5_?)del | GRCh37 (hg19) | NC_000022.10 | Chr22 | 18,893,888 | 21,481,925 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv18830700 | GRCh37: NC_000022.10:g.(?_18893888)_(21481925_?)del | copy number loss | germline | not provided | Pathogenic | ClinVar | RCV003312569.1, VCV002571168.2 | 1 |