nsv3911681
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:inversion
- Method Type:Multiple
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:13,102,027
- Description:t(2;2)(p23;p21)(hg19 chr2:g.42552694::ochr2:g.29446394) AND Small cell lung carcinoma
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 37171 SVs from 132 studies. See in: genome view
Overlapping variant regions from other studies: 37198 SVs from 132 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3911681 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 29,223,528 | 42,325,554 |
| nsv3911681 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 29,446,394 | 42,552,694 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15130085 | inversion | Multiple | Multiple | SMALL CELL CANCER OF THE LUNG; See individual phenotypes in OMIM allelic variants; Small Cell Lung Carcinoma; Small cell lung cancer; Small cell lung cancer; Small cell lung carcinoma | Pathogenic | ClinVar | RCV000576833.1, VCV000487484.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15130085 | Remapped | Good | NC_000002.12:g.292 23528_42325554inv | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 29,223,528 | 42,325,554 |
| nssv15130085 | Submitted genomic | NC_000002.11:g.294 46394_42552694inv | GRCh37 (hg19) | NC_000002.11 | Chr2 | 29,446,394 | 42,552,694 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15130085 | GRCh37: NC_000002.11:g.29446394_42552694inv | inversion | somatic | SMALL CELL CANCER OF THE LUNG; See individual phenotypes in OMIM allelic variants; Small Cell Lung Carcinoma; Small cell lung cancer; Small cell lung cancer; Small cell lung carcinoma | Pathogenic | ClinVar | RCV000576833.1, VCV000487484.1 |