nsv3913744
- 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:47,833
- Description:GRCh38/hg38 3q13.32(chr3:119033541-119081373)x4 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: 295 SVs from 51 studies. See in: genome view
Overlapping variant regions from other studies: 295 SVs from 51 studies. See in: genome view
Overlapping variant regions from other studies: 91 SVs from 14 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3913744 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000003.12 | Chr3 | 119,033,541 | 119,081,373 |
| nsv3913744 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 118,752,388 | 118,800,220 |
| nsv3913744 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000003.10 | Chr3 | 120,235,078 | 120,282,910 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15120043 | copy number gain | Multiple | Multiple | See cases | Benign/Likely benign | ClinVar | RCV000134263.4, VCV000144859.1 | 4 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15120043 | Submitted genomic | NC_000003.12:g.(?_ 119033541)_(119081 373_?)dup | GRCh38 (hg38) | NC_000003.12 | Chr3 | 119,033,541 | 119,081,373 |
| nssv15120043 | Submitted genomic | NC_000003.11:g.(?_ 118752388)_(118800 220_?)dup | GRCh37 (hg19) | NC_000003.11 | Chr3 | 118,752,388 | 118,800,220 |
| nssv15120043 | Submitted genomic | NC_000003.10:g.(?_ 120235078)_(120282 910_?)dup | NCBI36 (hg18) | NC_000003.10 | Chr3 | 120,235,078 | 120,282,910 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15120043 | GRCh37: NC_000003.11:g.(?_118752388)_(118800220_?)dup, GRCh38: NC_000003.12:g.(?_119033541)_(119081373_?)dup, NCBI36: NC_000003.10:g.(?_120235078)_(120282910_?)dup | copy number gain | not provided | See cases | Benign/Likely benign | ClinVar | RCV000134263.4, VCV000144859.1 | 4 |