nsv3907722
- 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:80,120,014
- Description:GRCh37/hg19 18p11.32-q23(chr18:136227-78014123) AND See cases
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 213752 SVs from 141 studies. See in: genome view
Overlapping variant regions from other studies: 213513 SVs from 141 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3907722 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000018.10 | Chr18 | 136,227 | 80,256,240 |
| nsv3907722 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000018.9 | Chr18 | 136,227 | 78,014,123 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15150633 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000511189.2, VCV000443993.2 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15150633 | Remapped | Good | NC_000018.10:g.(?_ 136227)_(80256240_ ?)dup | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 136,227 | 80,256,240 |
| nssv15150633 | Submitted genomic | NC_000018.9:g.(?_1 36227)_(78014123_? )dup | GRCh37 (hg19) | NC_000018.9 | Chr18 | 136,227 | 78,014,123 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15150633 | GRCh37: NC_000018.9:g.(?_136227)_(78014123_?)dup | copy number gain | see ClinVar for details | See cases | Pathogenic | ClinVar | RCV000511189.2, VCV000443993.2 |