nsv3920642
- 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:1,733,585
- Description:GRCh38/hg38 3p14.1(chr3:65485083-67218667)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: 4396 SVs from 89 studies. See in: genome view
Overlapping variant regions from other studies: 4352 SVs from 89 studies. See in: genome view
Overlapping variant regions from other studies: 1158 SVs from 21 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3920642 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000003.12 | Chr3 | 65,485,083 | 67,218,667 |
| nsv3920642 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 65,470,758 | 67,269,091 |
| nsv3920642 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000003.10 | Chr3 | 65,445,798 | 67,351,781 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15137757 | copy number gain | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV000140759.4, VCV000152120.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15137757 | Submitted genomic | NC_000003.12:g.(?_ 65485083)_(6721866 7_?)dup | GRCh38 (hg38) | NC_000003.12 | Chr3 | 65,485,083 | 67,218,667 |
| nssv15137757 | Submitted genomic | NC_000003.11:g.(?_ 65470758)_(6726909 1_?)dup | GRCh37 (hg19) | NC_000003.11 | Chr3 | 65,470,758 | 67,269,091 |
| nssv15137757 | Submitted genomic | NC_000003.10:g.(?_ 65445798)_(6735178 1_?)dup | NCBI36 (hg18) | NC_000003.10 | Chr3 | 65,445,798 | 67,351,781 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15137757 | GRCh37: NC_000003.11:g.(?_65470758)_(67269091_?)dup, GRCh38: NC_000003.12:g.(?_65485083)_(67218667_?)dup, NCBI36: NC_000003.10:g.(?_65445798)_(67351781_?)dup | copy number gain | not provided | See cases | Uncertain significance | ClinVar | RCV000140759.4, VCV000152120.2 | 3 |