nsv6290474
- 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:254,445
- Description:GRCh37/hg19 2p16.3(chr2:51002884-51257328)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: 1215 SVs from 81 studies. See in: genome view
Overlapping variant regions from other studies: 1215 SVs from 81 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6290474 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 50,775,746 | 51,030,190 |
| nsv6290474 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 51,002,884 | 51,257,328 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv17957244 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV001834521.1, VCV001341259.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17957244 | Remapped | Perfect | NC_000002.12:g.(?_ 50775746)_(5103019 0_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 50,775,746 | 51,030,190 |
| nssv17957244 | Submitted genomic | NC_000002.11:g.(?_ 51002884)_(5125732 8_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 51,002,884 | 51,257,328 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv17957244 | GRCh37: NC_000002.11:g.(?_51002884)_(51257328_?)del | copy number loss | germline | not provided | Pathogenic | ClinVar | RCV001834521.1, VCV001341259.1 | 1 |