nsv3877758
- 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:11,299,904
- Description:GRCh37/hg19 2q24.1-24.3(chr2:157970774-169270675)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: 25360 SVs from 122 studies. See in: genome view
Overlapping variant regions from other studies: 25360 SVs from 122 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3877758 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 157,114,262 | 168,414,165 |
| nsv3877758 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 157,970,774 | 169,270,675 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15152071 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000512264.2, VCV000443473.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15152071 | Remapped | Perfect | NC_000002.12:g.(?_ 157114262)_(168414 165_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 157,114,262 | 168,414,165 |
| nssv15152071 | Submitted genomic | NC_000002.11:g.(?_ 157970774)_(169270 675_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 157,970,774 | 169,270,675 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15152071 | GRCh37: NC_000002.11:g.(?_157970774)_(169270675_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000512264.2, VCV000443473.2 | 1 |