nsv4728410
- 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:6,016,942
- Description:GRCh37/hg19 2q12.2-13(chr2:107029680-113187742)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: 13278 SVs from 130 studies. See in: genome view
Overlapping variant regions from other studies: 13275 SVs from 130 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4728410 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 106,413,224 | 112,430,165 |
| nsv4728410 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 107,029,680 | 113,187,742 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16254438 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV001259645.1, VCV000980469.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16254438 | Remapped | Good | NC_000002.12:g.(?_ 106413224)_(112430 165_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 106,413,224 | 112,430,165 |
| nssv16254438 | Submitted genomic | NC_000002.11:g.(?_ 107029680)_(113187 742_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 107,029,680 | 113,187,742 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16254438 | GRCh37: NC_000002.11:g.(?_107029680)_(113187742_?)del | copy number loss | germline | not provided | Pathogenic | ClinVar | RCV001259645.1, VCV000980469.1 | 1 |