nsv3918982
- 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:29,942,611
- Description:GRCh38/hg38 3q26.2-29(chr3:168167568-198110178)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: 86570 SVs from 142 studies. See in: genome view
Overlapping variant regions from other studies: 86569 SVs from 142 studies. See in: genome view
Overlapping variant regions from other studies: 21733 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 |
|---|---|---|---|---|---|---|---|
| nsv3918982 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000003.12 | Chr3 | 168,167,568 | 198,110,178 |
| nsv3918982 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 167,885,356 | 197,837,049 |
| nsv3918982 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000003.10 | Chr3 | 169,368,050 | 199,321,446 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15146719 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000137106.5, VCV000148012.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15146719 | Submitted genomic | NC_000003.12:g.(?_ 168167568)_(198110 178_?)dup | GRCh38 (hg38) | NC_000003.12 | Chr3 | 168,167,568 | 198,110,178 |
| nssv15146719 | Submitted genomic | NC_000003.11:g.(?_ 167885356)_(197837 049_?)dup | GRCh37 (hg19) | NC_000003.11 | Chr3 | 167,885,356 | 197,837,049 |
| nssv15146719 | Submitted genomic | NC_000003.10:g.(?_ 169368050)_(199321 446_?)dup | NCBI36 (hg18) | NC_000003.10 | Chr3 | 169,368,050 | 199,321,446 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15146719 | GRCh37: NC_000003.11:g.(?_167885356)_(197837049_?)dup, GRCh38: NC_000003.12:g.(?_168167568)_(198110178_?)dup, NCBI36: NC_000003.10:g.(?_169368050)_(199321446_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000137106.5, VCV000148012.2 | 3 |