nsv3920718
- 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:7,582,903
- Description:GRCh38/hg38 3q27.3-29(chr3:187446231-195029133)x1 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: 21354 SVs from 126 studies. See in: genome view
Overlapping variant regions from other studies: 21332 SVs from 126 studies. See in: genome view
Overlapping variant regions from other studies: 6274 SVs from 36 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3920718 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000003.12 | Chr3 | 187,446,231 | 195,029,133 |
| nsv3920718 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 187,164,019 | 194,749,862 |
| nsv3920718 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000003.10 | Chr3 | 188,646,713 | 196,231,151 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15146267 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000051610.4, VCV000057870.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15146267 | Submitted genomic | NC_000003.12:g.(?_ 187446231)_(195029 133_?)del | GRCh38 (hg38) | NC_000003.12 | Chr3 | 187,446,231 | 195,029,133 |
| nssv15146267 | Submitted genomic | NC_000003.11:g.(?_ 187164019)_(194749 862_?)del | GRCh37 (hg19) | NC_000003.11 | Chr3 | 187,164,019 | 194,749,862 |
| nssv15146267 | Submitted genomic | NC_000003.10:g.(?_ 188646713)_(196231 151_?)del | NCBI36 (hg18) | NC_000003.10 | Chr3 | 188,646,713 | 196,231,151 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15146267 | GRCh37: NC_000003.11:g.(?_187164019)_(194749862_?)del, GRCh38: NC_000003.12:g.(?_187446231)_(195029133_?)del, NCBI36: NC_000003.10:g.(?_188646713)_(196231151_?)del | copy number loss | de novo | See cases | Pathogenic | ClinVar | RCV000051610.4, VCV000057870.1 | 1 |