nsv4728510
- 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:2,133,259
- Description:GRCh37/hg19 2q36.1(chr2:222621434-224754689)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: 5361 SVs from 96 studies. See in: genome view
Overlapping variant regions from other studies: 5361 SVs from 96 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4728510 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 221,756,714 | 223,889,972 |
| nsv4728510 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 222,621,434 | 224,754,689 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16255235 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV001259185.1, VCV000980009.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16255235 | Remapped | Perfect | NC_000002.12:g.(?_ 221756714)_(223889 972_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 221,756,714 | 223,889,972 |
| nssv16255235 | Submitted genomic | NC_000002.11:g.(?_ 222621434)_(224754 689_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 222,621,434 | 224,754,689 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16255235 | GRCh37: NC_000002.11:g.(?_222621434)_(224754689_?)del | copy number loss | germline | not provided | Pathogenic | ClinVar | RCV001259185.1, VCV000980009.1 | 1 |