nsv3875157
- 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:4,365,666
- Description:GRCh37/hg19 2q32.3-33.1(chr2:196581377-200947041)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: 9058 SVs from 99 studies. See in: genome view
Overlapping variant regions from other studies: 9058 SVs from 99 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3875157 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 195,716,653 | 200,082,318 |
| nsv3875157 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 196,581,377 | 200,947,041 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15124134 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000240401.1, VCV000253668.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15124134 | Remapped | Perfect | NC_000002.12:g.(?_ 195716653)_(200082 318_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 195,716,653 | 200,082,318 |
| nssv15124134 | Submitted genomic | NC_000002.11:g.(?_ 196581377)_(200947 041_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 196,581,377 | 200,947,041 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15124134 | GRCh37: NC_000002.11:g.(?_196581377)_(200947041_?)del | copy number loss | unknown | See cases | Pathogenic | ClinVar | RCV000240401.1, VCV000253668.1 | 1 |