nsv4455796
- 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:81,889
- Description:GRCh37/hg19 12q24.21(chr12:116327565-116409453)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: 296 SVs from 55 studies. See in: genome view
Overlapping variant regions from other studies: 296 SVs from 55 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4455796 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 115,889,760 | 115,971,648 |
| nsv4455796 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 116,327,565 | 116,409,453 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15773354 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV000849471.2, VCV000688780.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15773354 | Remapped | Perfect | NC_000012.12:g.(?_ 115889760)_(115971 648_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 115,889,760 | 115,971,648 |
| nssv15773354 | Submitted genomic | NC_000012.11:g.(?_ 116327565)_(116409 453_?)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 116,327,565 | 116,409,453 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15773354 | GRCh37: NC_000012.11:g.(?_116327565)_(116409453_?)dup | copy number gain | unknown | not provided | Uncertain significance | ClinVar | RCV000849471.2, VCV000688780.2 | 3 |