nsv3916549
- 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:3,103
- Description:GRCh38/hg38 3q29(chr3:195733529-195736631)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: 553 SVs from 78 studies. See in: genome view
Overlapping variant regions from other studies: 557 SVs from 79 studies. See in: genome view
Overlapping variant regions from other studies: 284 SVs from 22 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3916549 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000003.12 | Chr3 | 195,733,529 | 195,736,631 |
| nsv3916549 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 195,460,400 | 195,463,502 |
| nsv3916549 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000003.10 | Chr3 | 196,946,071 | 196,949,173 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15134845 | copy number gain | Multiple | Multiple | See cases | Benign | ClinVar | RCV000136796.4, VCV000147633.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15134845 | Submitted genomic | NC_000003.12:g.(?_ 195733529)_(195736 631_?)dup | GRCh38 (hg38) | NC_000003.12 | Chr3 | 195,733,529 | 195,736,631 |
| nssv15134845 | Submitted genomic | NC_000003.11:g.(?_ 195460400)_(195463 502_?)dup | GRCh37 (hg19) | NC_000003.11 | Chr3 | 195,460,400 | 195,463,502 |
| nssv15134845 | Submitted genomic | NC_000003.10:g.(?_ 196946071)_(196949 173_?)dup | NCBI36 (hg18) | NC_000003.10 | Chr3 | 196,946,071 | 196,949,173 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15134845 | GRCh37: NC_000003.11:g.(?_195460400)_(195463502_?)dup, GRCh38: NC_000003.12:g.(?_195733529)_(195736631_?)dup, NCBI36: NC_000003.10:g.(?_196946071)_(196949173_?)dup | copy number gain | tested-inconclusive | See cases | Benign | ClinVar | RCV000136796.4, VCV000147633.2 | 3 |