nsv3900158
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:1,104,819
- Description:GRCh37/hg19 12q24.22-24.23(chr12:117104335-118209153)x1 AND not provided
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 2963 SVs from 90 studies. See in: genome view
Overlapping variant regions from other studies: 2963 SVs from 90 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3900158 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 116,666,530 | 117,771,348 |
| nsv3900158 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 117,104,335 | 118,209,153 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15155398 | copy number loss | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV000683457.1, VCV000563968.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15155398 | Remapped | Perfect | NC_000012.12:g.(?_ 116666530)_(117771 348_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 116,666,530 | 117,771,348 |
| nssv15155398 | Submitted genomic | NC_000012.11:g.(?_ 117104335)_(118209 153_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 117,104,335 | 118,209,153 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15155398 | GRCh37: NC_000012.11:g.(?_117104335)_(118209153_?)del | copy number loss | germline | not provided | Uncertain significance | ClinVar | RCV000683457.1, VCV000563968.1 | 1 |