nsv3920662
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:NCBI36
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:20,581,474
- Description:NCBI36/hg18 3q26.32-29(chr3:178729187-199321446)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: 63642 SVs from 139 studies. See in: genome view
Overlapping variant regions from other studies: 63638 SVs from 139 studies. See in: genome view
Overlapping variant regions from other studies: 16027 SVs from 39 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3920662 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 177,528,705 | 198,110,178 |
| nsv3920662 | Remapped | Good | GRCh37.p13 | Primary Assembly | First Pass | NC_000003.11 | Chr3 | 177,246,493 | 197,837,049 |
| nsv3920662 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000003.10 | Chr3 | 178,729,187 | 199,321,446 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15142547 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000511139.2, VCV000443684.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15142547 | Remapped | Good | NC_000003.12:g.(?_ 177528705)_(198110 178_?)dup | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 177,528,705 | 198,110,178 |
| nssv15142547 | Remapped | Good | NC_000003.11:g.(?_ 177246493)_(197837 049_?)dup | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 177,246,493 | 197,837,049 |
| nssv15142547 | Submitted genomic | NC_000003.10:g.(?_ 178729187)_(199321 446_?)dup | NCBI36 (hg18) | NC_000003.10 | Chr3 | 178,729,187 | 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 |
|---|---|---|---|---|---|---|---|---|
| nssv15142547 | NCBI36: NC_000003.10:g.(?_178729187)_(199321446_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000511139.2, VCV000443684.2 | 3 |