nsv3920665
- 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:34,941
- Description:GRCh38/hg38 12q24.21(chr12:116019418-116054358)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: 137 SVs from 38 studies. See in: genome view
Overlapping variant regions from other studies: 137 SVs from 38 studies. See in: genome view
Overlapping variant regions from other studies: 48 SVs from 10 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3920665 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000012.12 | Chr12 | 116,019,418 | 116,054,358 |
| nsv3920665 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 116,457,223 | 116,492,163 |
| nsv3920665 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000012.10 | Chr12 | 114,941,606 | 114,976,546 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15120280 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000051340.4, VCV000057607.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15120280 | Submitted genomic | NC_000012.12:g.(?_ 116019418)_(116054 358_?)del | GRCh38 (hg38) | NC_000012.12 | Chr12 | 116,019,418 | 116,054,358 |
| nssv15120280 | Submitted genomic | NC_000012.11:g.(?_ 116457223)_(116492 163_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 116,457,223 | 116,492,163 |
| nssv15120280 | Submitted genomic | NC_000012.10:g.(?_ 114941606)_(114976 546_?)del | NCBI36 (hg18) | NC_000012.10 | Chr12 | 114,941,606 | 114,976,546 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15120280 | GRCh37: NC_000012.11:g.(?_116457223)_(116492163_?)del, GRCh38: NC_000012.12:g.(?_116019418)_(116054358_?)del, NCBI36: NC_000012.10:g.(?_114941606)_(114976546_?)del | copy number loss | de novo | See cases | Pathogenic | ClinVar | RCV000051340.4, VCV000057607.1 | 1 |