nsv3916578
- 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:2,874,432
- Description:GRCh38/hg38 16p13.11-12.3(chr16:15398450-18272881)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: 8783 SVs from 125 studies. See in: genome view
Overlapping variant regions from other studies: 8785 SVs from 125 studies. See in: genome view
Overlapping variant regions from other studies: 2223 SVs from 36 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3916578 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000016.10 | Chr16 | 15,398,450 | 18,272,881 |
| nsv3916578 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000016.9 | Chr16 | 15,492,307 | 18,366,738 |
| nsv3916578 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000016.8 | Chr16 | 15,399,808 | 18,274,239 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15146759 | copy number loss | Multiple | Multiple | See cases | Pathogenic/Likely pathogenic | ClinVar | RCV000143204.5, VCV000155137.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15146759 | Submitted genomic | NC_000016.10:g.(?_ 15398450)_(1827288 1_?)del | GRCh38 (hg38) | NC_000016.10 | Chr16 | 15,398,450 | 18,272,881 |
| nssv15146759 | Submitted genomic | NC_000016.9:g.(?_1 5492307)_(18366738 _?)del | GRCh37 (hg19) | NC_000016.9 | Chr16 | 15,492,307 | 18,366,738 |
| nssv15146759 | Submitted genomic | NC_000016.8:g.(?_1 5399808)_(18274239 _?)del | NCBI36 (hg18) | NC_000016.8 | Chr16 | 15,399,808 | 18,274,239 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15146759 | GRCh37: NC_000016.9:g.(?_15492307)_(18366738_?)del, GRCh38: NC_000016.10:g.(?_15398450)_(18272881_?)del, NCBI36: NC_000016.8:g.(?_15399808)_(18274239_?)del | copy number loss | not provided | See cases | Pathogenic/Likely pathogenic | ClinVar | RCV000143204.5, VCV000155137.2 | 1 |