nsv3878768
- 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:1,746,205
- Description:GRCh37/hg19 2p23.2-23.1(chr2:28306106-30052309)x3 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: 4282 SVs from 99 studies. See in: genome view
Overlapping variant regions from other studies: 4282 SVs from 99 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3878768 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 28,083,239 | 29,829,443 |
| nsv3878768 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 28,306,106 | 30,052,309 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15141226 | copy number gain | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV000510617.2, VCV000442481.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15141226 | Remapped | Perfect | NC_000002.12:g.(?_ 28083239)_(2982944 3_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 28,083,239 | 29,829,443 |
| nssv15141226 | Submitted genomic | NC_000002.11:g.(?_ 28306106)_(3005230 9_?)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 28,306,106 | 30,052,309 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15141226 | GRCh37: NC_000002.11:g.(?_28306106)_(30052309_?)dup | copy number gain | maternal | See cases | Uncertain significance | ClinVar | RCV000510617.2, VCV000442481.2 | 3 |