nsv4728205
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:354,240
- Description:GRCh37/hg19 3q23-24(chr3:142542265-142896504)x3 AND not provided
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 954 SVs from 80 studies. See in: genome view
Overlapping variant regions from other studies: 954 SVs from 80 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4728205 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 142,823,423 | 143,177,662 |
| nsv4728205 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 142,542,265 | 142,896,504 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16255261 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV001259241.1, VCV000980065.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16255261 | Remapped | Perfect | NC_000003.12:g.(?_ 142823423)_(143177 662_?)dup | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 142,823,423 | 143,177,662 |
| nssv16255261 | Submitted genomic | NC_000003.11:g.(?_ 142542265)_(142896 504_?)dup | GRCh37 (hg19) | NC_000003.11 | Chr3 | 142,542,265 | 142,896,504 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16255261 | GRCh37: NC_000003.11:g.(?_142542265)_(142896504_?)dup | copy number gain | germline | not provided | Uncertain significance | ClinVar | RCV001259241.1, VCV000980065.1 | 3 |