nsv3915488
- 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:12,624,330
- Description:GRCh38/hg38 3q27.2-29(chr3:185485849-198110178)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: 43733 SVs from 138 studies. See in: genome view
Overlapping variant regions from other studies: 43729 SVs from 138 studies. See in: genome view
Overlapping variant regions from other studies: 11224 SVs from 38 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3915488 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000003.12 | Chr3 | 185,485,849 | 198,110,178 |
| nsv3915488 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 185,203,637 | 197,837,049 |
| nsv3915488 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000003.10 | Chr3 | 186,686,331 | 199,321,446 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15146266 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000051608.4, VCV000057868.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15146266 | Submitted genomic | NC_000003.12:g.(?_ 185485849)_(198110 178_?)del | GRCh38 (hg38) | NC_000003.12 | Chr3 | 185,485,849 | 198,110,178 |
| nssv15146266 | Submitted genomic | NC_000003.11:g.(?_ 185203637)_(197837 049_?)del | GRCh37 (hg19) | NC_000003.11 | Chr3 | 185,203,637 | 197,837,049 |
| nssv15146266 | Submitted genomic | NC_000003.10:g.(?_ 186686331)_(199321 446_?)del | NCBI36 (hg18) | NC_000003.10 | Chr3 | 186,686,331 | 199,321,446 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15146266 | GRCh37: NC_000003.11:g.(?_185203637)_(197837049_?)del, GRCh38: NC_000003.12:g.(?_185485849)_(198110178_?)del, NCBI36: NC_000003.10:g.(?_186686331)_(199321446_?)del | copy number loss | de novo | See cases | Pathogenic | ClinVar | RCV000051608.4, VCV000057868.1 | 1 |