nsv3924580
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38, NCBI36
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:14,905,244
- Description:GRCh38/hg38 18p11.32-11.21(chr18:118760-15024003)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: 46190 SVs from 130 studies. See in: genome view
Overlapping variant regions from other studies: 46195 SVs from 130 studies. See in: genome view
Overlapping variant regions from other studies: 12243 SVs from 39 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3924580 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000018.10 | Chr18 | 118,760 | 15,024,003 |
| nsv3924580 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000018.9 | Chr18 | 118,760 | 15,024,002 |
| nsv3924580 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000018.8 | Chr18 | 108,760 | 15,014,002 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15147522 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000141086.6, VCV000152548.3 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15147522 | Submitted genomic | NC_000018.10:g.(?_ 118760)_(15024003_ ?)del | GRCh38 (hg38) | NC_000018.10 | Chr18 | 118,760 | 15,024,003 |
| nssv15147522 | Submitted genomic | NC_000018.9:g.(?_1 18760)_(15024002_? )del | GRCh37 (hg19) | NC_000018.9 | Chr18 | 118,760 | 15,024,002 |
| nssv15147522 | Submitted genomic | NC_000018.8:g.(?_1 08760)_(15014002_? )del | NCBI36 (hg18) | NC_000018.8 | Chr18 | 108,760 | 15,014,002 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15147522 | GRCh37: NC_000018.9:g.(?_118760)_(15024002_?)del, GRCh38: NC_000018.10:g.(?_118760)_(15024003_?)del, NCBI36: NC_000018.8:g.(?_108760)_(15014002_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000141086.6, VCV000152548.3 | 1 |