nsv3904719
- 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:132,690,479
- Description:GRCh37/hg19 12p13.33-q24.33(chr12:621220-133779118)x3 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: 363730 SVs from 145 studies. See in: genome view
Overlapping variant regions from other studies: 362510 SVs from 145 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3904719 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 512,054 | 133,202,532 |
| nsv3904719 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 621,220 | 133,779,118 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15171855 | copy number gain | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV000750253.2, VCV000613617.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15171855 | Remapped | Good | NC_000012.12:g.(?_ 512054)_(133202532 _?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 512,054 | 133,202,532 |
| nssv15171855 | Submitted genomic | NC_000012.11:g.(?_ 621220)_(133779118 _?)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 621,220 | 133,779,118 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15171855 | GRCh37: NC_000012.11:g.(?_621220)_(133779118_?)dup | copy number gain | unknown | not provided | Pathogenic | ClinVar | RCV000750253.2, VCV000613617.2 | 3 |