nsv3910298
- 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:3,232,777
- Description:GRCh38/hg38 12q13.3-14.1(chr12:57041158-60273934)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: 8343 SVs from 108 studies. See in: genome view
Overlapping variant regions from other studies: 8343 SVs from 108 studies. See in: genome view
Overlapping variant regions from other studies: 2267 SVs from 29 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3910298 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000012.12 | Chr12 | 57,041,158 | 60,273,934 |
| nsv3910298 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 57,434,942 | 60,667,715 |
| nsv3910298 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000012.10 | Chr12 | 55,721,209 | 58,953,982 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15133180 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000052814.5, VCV000059020.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15133180 | Submitted genomic | NC_000012.12:g.(?_ 57041158)_(6027393 4_?)del | GRCh38 (hg38) | NC_000012.12 | Chr12 | 57,041,158 | 60,273,934 |
| nssv15133180 | Submitted genomic | NC_000012.11:g.(?_ 57434942)_(6066771 5_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 57,434,942 | 60,667,715 |
| nssv15133180 | Submitted genomic | NC_000012.10:g.(?_ 55721209)_(5895398 2_?)del | NCBI36 (hg18) | NC_000012.10 | Chr12 | 55,721,209 | 58,953,982 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15133180 | GRCh37: NC_000012.11:g.(?_57434942)_(60667715_?)del, GRCh38: NC_000012.12:g.(?_57041158)_(60273934_?)del, NCBI36: NC_000012.10:g.(?_55721209)_(58953982_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000052814.5, VCV000059020.1 | 1 |