nsv4674111
- 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:1,304,636
- Description:GRCh37/hg19 2q24.1(chr2:157117939-158422574)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: 2604 SVs from 81 studies. See in: genome view
Overlapping variant regions from other studies: 2604 SVs from 81 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4674111 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 156,261,427 | 157,566,062 |
| nsv4674111 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 157,117,939 | 158,422,574 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16207851 | copy number loss | Multiple | Multiple | not provided | Likely pathogenic | ClinVar | RCV001005344.1, VCV000814332.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16207851 | Remapped | Perfect | NC_000002.12:g.(?_ 156261427)_(157566 062_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 156,261,427 | 157,566,062 |
| nssv16207851 | Submitted genomic | NC_000002.11:g.(?_ 157117939)_(158422 574_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 157,117,939 | 158,422,574 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16207851 | GRCh37: NC_000002.11:g.(?_157117939)_(158422574_?)del | copy number loss | germline | not provided | Likely pathogenic | ClinVar | RCV001005344.1, VCV000814332.1 | 1 |