nsv4451022
- 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:6,015,601
- Description:GRCh37/hg19 2p24.3-24.1(chr2:15631145-21729493)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: 13535 SVs from 117 studies. See in: genome view
Overlapping variant regions from other studies: 13516 SVs from 117 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4451022 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 15,491,021 | 21,506,621 |
| nsv4451022 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 15,631,145 | 21,729,493 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15775748 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV000847885.2, VCV000687179.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15775748 | Remapped | Good | NC_000002.12:g.(?_ 15491021)_(2150662 1_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 15,491,021 | 21,506,621 |
| nssv15775748 | Submitted genomic | NC_000002.11:g.(?_ 15631145)_(2172949 3_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 15,631,145 | 21,729,493 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15775748 | GRCh37: NC_000002.11:g.(?_15631145)_(21729493_?)del | copy number loss | unknown | not provided | Pathogenic | ClinVar | RCV000847885.2, VCV000687179.2 | 1 |