nsv3920316
- 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:3,842,056
- Description:GRCh38/hg38 16p13.11-12.3(chr16:14816348-18658403)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: 11233 SVs from 129 studies. See in: genome view
Overlapping variant regions from other studies: 11227 SVs from 129 studies. See in: genome view
Overlapping variant regions from other studies: 2830 SVs from 38 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3920316 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000016.10 | Chr16 | 14,816,348 | 18,658,403 |
| nsv3920316 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000016.9 | Chr16 | 14,910,205 | 18,669,725 |
| nsv3920316 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000016.8 | Chr16 | 14,817,706 | 18,577,226 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15146326 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000050970.4, VCV000057294.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15146326 | Submitted genomic | NC_000016.10:g.(?_ 14816348)_(1865840 3_?)del | GRCh38 (hg38) | NC_000016.10 | Chr16 | 14,816,348 | 18,658,403 |
| nssv15146326 | Submitted genomic | NC_000016.9:g.(?_1 4910205)_(18669725 _?)del | GRCh37 (hg19) | NC_000016.9 | Chr16 | 14,910,205 | 18,669,725 |
| nssv15146326 | Submitted genomic | NC_000016.8:g.(?_1 4817706)_(18577226 _?)del | NCBI36 (hg18) | NC_000016.8 | Chr16 | 14,817,706 | 18,577,226 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15146326 | GRCh37: NC_000016.9:g.(?_14910205)_(18669725_?)del, GRCh38: NC_000016.10:g.(?_14816348)_(18658403_?)del, NCBI36: NC_000016.8:g.(?_14817706)_(18577226_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000050970.4, VCV000057294.1 | 1 |