nsv3912740
- 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:62,113
- Description:GRCh38/hg38 3q28(chr3:191322384-191384496)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: 511 SVs from 80 studies. See in: genome view
Overlapping variant regions from other studies: 511 SVs from 80 studies. See in: genome view
Overlapping variant regions from other studies: 229 SVs from 23 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3912740 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000003.12 | Chr3 | 191,322,384 | 191,384,496 |
| nsv3912740 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 191,040,173 | 191,102,285 |
| nsv3912740 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000003.10 | Chr3 | 192,522,867 | 192,584,979 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15139416 | copy number gain | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV000141935.4, VCV000153610.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15139416 | Submitted genomic | NC_000003.12:g.(?_ 191322384)_(191384 496_?)dup | GRCh38 (hg38) | NC_000003.12 | Chr3 | 191,322,384 | 191,384,496 |
| nssv15139416 | Submitted genomic | NC_000003.11:g.(?_ 191040173)_(191102 285_?)dup | GRCh37 (hg19) | NC_000003.11 | Chr3 | 191,040,173 | 191,102,285 |
| nssv15139416 | Submitted genomic | NC_000003.10:g.(?_ 192522867)_(192584 979_?)dup | NCBI36 (hg18) | NC_000003.10 | Chr3 | 192,522,867 | 192,584,979 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15139416 | GRCh37: NC_000003.11:g.(?_191040173)_(191102285_?)dup, GRCh38: NC_000003.12:g.(?_191322384)_(191384496_?)dup, NCBI36: NC_000003.10:g.(?_192522867)_(192584979_?)dup | copy number gain | not provided | See cases | Uncertain significance | ClinVar | RCV000141935.4, VCV000153610.2 | 3 |