nsv3915021
- 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:233,225
- Description:GRCh38/hg38 3q26.33(chr3:179948335-180181559)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: 576 SVs from 60 studies. See in: genome view
Overlapping variant regions from other studies: 576 SVs from 60 studies. See in: genome view
Overlapping variant regions from other studies: 153 SVs from 11 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3915021 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000003.12 | Chr3 | 179,948,335 | 180,181,559 |
| nsv3915021 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 179,666,123 | 179,899,347 |
| nsv3915021 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000003.10 | Chr3 | 181,148,817 | 181,382,041 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15136254 | copy number gain | Multiple | Multiple | See cases | Benign | ClinVar | RCV000136857.4, VCV000147701.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15136254 | Submitted genomic | NC_000003.12:g.(?_ 179948335)_(180181 559_?)dup | GRCh38 (hg38) | NC_000003.12 | Chr3 | 179,948,335 | 180,181,559 |
| nssv15136254 | Submitted genomic | NC_000003.11:g.(?_ 179666123)_(179899 347_?)dup | GRCh37 (hg19) | NC_000003.11 | Chr3 | 179,666,123 | 179,899,347 |
| nssv15136254 | Submitted genomic | NC_000003.10:g.(?_ 181148817)_(181382 041_?)dup | NCBI36 (hg18) | NC_000003.10 | Chr3 | 181,148,817 | 181,382,041 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15136254 | GRCh37: NC_000003.11:g.(?_179666123)_(179899347_?)dup, GRCh38: NC_000003.12:g.(?_179948335)_(180181559_?)dup, NCBI36: NC_000003.10:g.(?_181148817)_(181382041_?)dup | copy number gain | not provided | See cases | Benign | ClinVar | RCV000136857.4, VCV000147701.2 | 3 |