nsv6290944
- 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:107,357
- Description:GRCh37/hg19 2q36.3(chr2:230626876-230734232)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: 350 SVs from 42 studies. See in: genome view
Overlapping variant regions from other studies: 350 SVs from 42 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6290944 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 229,762,160 | 229,869,516 |
| nsv6290944 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 230,626,876 | 230,734,232 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv17956302 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV001834326.1, VCV001340841.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17956302 | Remapped | Perfect | NC_000002.12:g.(?_ 229762160)_(229869 516_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 229,762,160 | 229,869,516 |
| nssv17956302 | Submitted genomic | NC_000002.11:g.(?_ 230626876)_(230734 232_?)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 230,626,876 | 230,734,232 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv17956302 | GRCh37: NC_000002.11:g.(?_230626876)_(230734232_?)dup | copy number gain | germline | not provided | Uncertain significance | ClinVar | RCV001834326.1, VCV001340841.1 | 3 |