nsv3922616
- 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:19,567,355
- Description:GRCh38/hg38 16q22.1-24.3(chr16:70514631-90081985)x3 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: 69348 SVs from 140 studies. See in: genome view
Overlapping variant regions from other studies: 69283 SVs from 140 studies. See in: genome view
Overlapping variant regions from other studies: 17816 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 |
|---|---|---|---|---|---|---|---|
| nsv3922616 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000016.10 | Chr16 | 70,514,631 | 90,081,985 |
| nsv3922616 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000016.9 | Chr16 | 70,548,534 | 90,148,393 |
| nsv3922616 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000016.8 | Chr16 | 69,106,035 | 88,675,894 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15146412 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000052422.7, VCV000058646.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15146412 | Submitted genomic | NC_000016.10:g.(?_ 70514631)_(9008198 5_?)dup | GRCh38 (hg38) | NC_000016.10 | Chr16 | 70,514,631 | 90,081,985 |
| nssv15146412 | Submitted genomic | NC_000016.9:g.(?_7 0548534)_(90148393 _?)dup | GRCh37 (hg19) | NC_000016.9 | Chr16 | 70,548,534 | 90,148,393 |
| nssv15146412 | Submitted genomic | NC_000016.8:g.(?_6 9106035)_(88675894 _?)dup | NCBI36 (hg18) | NC_000016.8 | Chr16 | 69,106,035 | 88,675,894 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15146412 | GRCh37: NC_000016.9:g.(?_70548534)_(90148393_?)dup, GRCh38: NC_000016.10:g.(?_70514631)_(90081985_?)dup, NCBI36: NC_000016.8:g.(?_69106035)_(88675894_?)dup | copy number gain | de novo | See cases | Pathogenic | ClinVar | RCV000052422.7, VCV000058646.2 | 3 |