nsv3919861
- 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:813,371
- Description:GRCh38/hg38 16p13.11(chr16:15398450-16211820)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: 3300 SVs from 108 studies. See in: genome view
Overlapping variant regions from other studies: 3300 SVs from 108 studies. See in: genome view
Overlapping variant regions from other studies: 947 SVs from 30 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3919861 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000016.10 | Chr16 | 15,398,450 | 16,211,820 |
| nsv3919861 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000016.9 | Chr16 | 15,492,307 | 16,305,677 |
| nsv3919861 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000016.8 | Chr16 | 15,399,808 | 16,213,178 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15148002 | copy number loss | Multiple | Multiple | See cases | Pathogenic/Likely pathogenic | ClinVar | RCV000134456.6, VCV000145054.3 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15148002 | Submitted genomic | NC_000016.10:g.(?_ 15398450)_(1621182 0_?)del | GRCh38 (hg38) | NC_000016.10 | Chr16 | 15,398,450 | 16,211,820 |
| nssv15148002 | Submitted genomic | NC_000016.9:g.(?_1 5492307)_(16305677 _?)del | GRCh37 (hg19) | NC_000016.9 | Chr16 | 15,492,307 | 16,305,677 |
| nssv15148002 | Submitted genomic | NC_000016.8:g.(?_1 5399808)_(16213178 _?)del | NCBI36 (hg18) | NC_000016.8 | Chr16 | 15,399,808 | 16,213,178 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15148002 | GRCh37: NC_000016.9:g.(?_15492307)_(16305677_?)del, GRCh38: NC_000016.10:g.(?_15398450)_(16211820_?)del, NCBI36: NC_000016.8:g.(?_15399808)_(16213178_?)del | copy number loss | not provided | See cases | Pathogenic/Likely pathogenic | ClinVar | RCV000134456.6, VCV000145054.3 | 1 |