nsv3924873
- 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:998,427
- Description:GRCh38/hg38 12q13.13(chr12:53224024-54222450)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: 2928 SVs from 91 studies. See in: genome view
Overlapping variant regions from other studies: 2931 SVs from 91 studies. See in: genome view
Overlapping variant regions from other studies: 727 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 |
|---|---|---|---|---|---|---|---|
| nsv3924873 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000012.12 | Chr12 | 53,224,024 | 54,222,450 |
| nsv3924873 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 53,617,808 | 54,616,234 |
| nsv3924873 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000012.10 | Chr12 | 51,904,075 | 52,902,501 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15147135 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000052812.5, VCV000059018.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15147135 | Submitted genomic | NC_000012.12:g.(?_ 53224024)_(5422245 0_?)del | GRCh38 (hg38) | NC_000012.12 | Chr12 | 53,224,024 | 54,222,450 |
| nssv15147135 | Submitted genomic | NC_000012.11:g.(?_ 53617808)_(5461623 4_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 53,617,808 | 54,616,234 |
| nssv15147135 | Submitted genomic | NC_000012.10:g.(?_ 51904075)_(5290250 1_?)del | NCBI36 (hg18) | NC_000012.10 | Chr12 | 51,904,075 | 52,902,501 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15147135 | GRCh37: NC_000012.11:g.(?_53617808)_(54616234_?)del, GRCh38: NC_000012.12:g.(?_53224024)_(54222450_?)del, NCBI36: NC_000012.10:g.(?_51904075)_(52902501_?)del | copy number loss | de novo | See cases | Pathogenic | ClinVar | RCV000052812.5, VCV000059018.1 | 1 |