nsv6636151
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:174
- Description:
See descriptions for individual calls in download files - Publication(s):Lindeman et al. 2018
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 150 SVs from 47 studies. See in: genome view
Overlapping variant regions from other studies: 148 SVs from 47 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nsv6636151 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000007.14 | Chr7 | 100,952,375 | 100,952,548 |
| nsv6636151 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 100,550,015 | 100,550,188 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv18330699 | deletion | 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 | RCV002465325.1, VCV001802494.1 |
| nssv18330700 | deletion | Multiple | Multiple | LUNG CANCER; Lung cancer | Pathogenic | ClinVar | RCV002465326.1, VCV001802494.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv18330699 | Submitted genomic | NC_000007.14:g.100 952375_100952548de l | GRCh38 (hg38) | NC_000007.14 | Chr7 | 100,952,375 | 100,952,548 |
| nssv18330700 | Submitted genomic | NC_000007.14:g.100 952375_100952548de l | GRCh38 (hg38) | NC_000007.14 | Chr7 | 100,952,375 | 100,952,548 |
| nssv18330699 | Submitted genomic | NC_000007.13:g.100 550015_100550188de l | GRCh37 (hg19) | NC_000007.13 | Chr7 | 100,550,015 | 100,550,188 |
| nssv18330700 | Submitted genomic | NC_000007.13:g.100 550015_100550188de l | GRCh37 (hg19) | NC_000007.13 | Chr7 | 100,550,015 | 100,550,188 |
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 |
|---|---|---|---|---|---|---|---|
| nssv18330699 | GRCh37: NC_000007.13:g.100550015_100550188del, GRCh38: NC_000007.14:g.100952375_100952548del | deletion | 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 | RCV002465325.1, VCV001802494.1 |
| nssv18330700 | GRCh37: NC_000007.13:g.100550015_100550188del, GRCh38: NC_000007.14:g.100952375_100952548del | deletion | somatic | LUNG CANCER; Lung cancer | Pathogenic | ClinVar | RCV002465326.1, VCV001802494.1 |