nsv3922069
- 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:4,661,184
- Description:GRCh38/hg38 3p26.1-25.2(chr3:7975734-12636917)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: 13357 SVs from 113 studies. See in: genome view
Overlapping variant regions from other studies: 13249 SVs from 113 studies. See in: genome view
Overlapping variant regions from other studies: 3432 SVs from 33 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3922069 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000003.12 | Chr3 | 7,975,734 | 12,636,917 |
| nsv3922069 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 8,017,421 | 12,678,416 |
| nsv3922069 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000003.10 | Chr3 | 7,992,421 | 12,653,416 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15148119 | copy number gain | Multiple | Multiple | See cases | Likely pathogenic | ClinVar | RCV000137309.7, VCV000148234.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15148119 | Submitted genomic | NC_000003.12:g.(?_ 7975734)_(12636917 _?)dup | GRCh38 (hg38) | NC_000003.12 | Chr3 | 7,975,734 | 12,636,917 |
| nssv15148119 | Submitted genomic | NC_000003.11:g.(?_ 8017421)_(12678416 _?)dup | GRCh37 (hg19) | NC_000003.11 | Chr3 | 8,017,421 | 12,678,416 |
| nssv15148119 | Submitted genomic | NC_000003.10:g.(?_ 7992421)_(12653416 _?)dup | NCBI36 (hg18) | NC_000003.10 | Chr3 | 7,992,421 | 12,653,416 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15148119 | GRCh37: NC_000003.11:g.(?_8017421)_(12678416_?)dup, GRCh38: NC_000003.12:g.(?_7975734)_(12636917_?)dup, NCBI36: NC_000003.10:g.(?_7992421)_(12653416_?)dup | copy number gain | paternal | See cases | Likely pathogenic | ClinVar | RCV000137309.7, VCV000148234.2 | 3 |