nsv3914327
- 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:6,180,799
- Description:GRCh38/hg38 12p12.3-12.1(chr12:15840854-22021652)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: 16349 SVs from 127 studies. See in: genome view
Overlapping variant regions from other studies: 16349 SVs from 127 studies. See in: genome view
Overlapping variant regions from other studies: 4692 SVs from 34 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3914327 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000012.12 | Chr12 | 15,840,854 | 22,021,652 |
| nsv3914327 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 15,993,788 | 22,174,586 |
| nsv3914327 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000012.10 | Chr12 | 15,885,055 | 22,065,853 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15133943 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000135620.4, VCV000146315.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15133943 | Submitted genomic | NC_000012.12:g.(?_ 15840854)_(2202165 2_?)del | GRCh38 (hg38) | NC_000012.12 | Chr12 | 15,840,854 | 22,021,652 |
| nssv15133943 | Submitted genomic | NC_000012.11:g.(?_ 15993788)_(2217458 6_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 15,993,788 | 22,174,586 |
| nssv15133943 | Submitted genomic | NC_000012.10:g.(?_ 15885055)_(2206585 3_?)del | NCBI36 (hg18) | NC_000012.10 | Chr12 | 15,885,055 | 22,065,853 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15133943 | GRCh37: NC_000012.11:g.(?_15993788)_(22174586_?)del, GRCh38: NC_000012.12:g.(?_15840854)_(22021652_?)del, NCBI36: NC_000012.10:g.(?_15885055)_(22065853_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000135620.4, VCV000146315.2 | 1 |