nsv3873192
- 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:22,395,487
- Description:GRCh37/hg19 1q23.3-25.3(chr1:161676893-184071723)x1 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: 49475 SVs from 128 studies. See in: genome view
Overlapping variant regions from other studies: 49473 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3873192 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 161,707,103 | 184,102,589 |
| nsv3873192 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 161,676,893 | 184,071,723 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15141825 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000447098.3, VCV000395654.3 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15141825 | Remapped | Good | NC_000001.11:g.(?_ 161707103)_(184102 589_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 161,707,103 | 184,102,589 |
| nssv15141825 | Submitted genomic | NC_000001.10:g.(?_ 161676893)_(184071 723_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 161,676,893 | 184,071,723 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15141825 | GRCh37: NC_000001.10:g.(?_161676893)_(184071723_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000447098.3, VCV000395654.3 | 1 |