nsv3922717
- 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:51,894,762
- Description:GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)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: 120561 SVs from 140 studies. See in: genome view
Overlapping variant regions from other studies: 120577 SVs from 140 studies. See in: genome view
Overlapping variant regions from other studies: 32459 SVs from 39 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3922717 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000003.12 | Chr3 | 93,800,620 | 145,695,381 |
| nsv3922717 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 93,519,464 | 145,413,168 |
| nsv3922717 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000003.10 | Chr3 | 95,002,154 | 146,895,858 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15148953 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000142340.7, VCV000154258.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15148953 | Submitted genomic | NC_000003.12:g.(?_ 93800620)_(1456953 81_?)dup | GRCh38 (hg38) | NC_000003.12 | Chr3 | 93,800,620 | 145,695,381 |
| nssv15148953 | Submitted genomic | NC_000003.11:g.(?_ 93519464)_(1454131 68_?)dup | GRCh37 (hg19) | NC_000003.11 | Chr3 | 93,519,464 | 145,413,168 |
| nssv15148953 | Submitted genomic | NC_000003.10:g.(?_ 95002154)_(1468958 58_?)dup | NCBI36 (hg18) | NC_000003.10 | Chr3 | 95,002,154 | 146,895,858 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15148953 | GRCh37: NC_000003.11:g.(?_93519464)_(145413168_?)dup, GRCh38: NC_000003.12:g.(?_93800620)_(145695381_?)dup, NCBI36: NC_000003.10:g.(?_95002154)_(146895858_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000142340.7, VCV000154258.2 | 3 |