nsv4728725
- 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:64,532,076
- Description:GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)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: 169660 SVs from 146 studies. See in: genome view
Overlapping variant regions from other studies: 169590 SVs from 146 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4728725 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 177,533,231 | 242,065,306 |
| nsv4728725 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 178,397,959 | 243,007,457 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16254741 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV001263052.1, VCV000983184.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16254741 | Remapped | Good | NC_000002.12:g.(17 7533231_?)_(?_2420 65306)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 177,533,231 | 242,065,306 |
| nssv16254741 | Submitted genomic | NC_000002.11:g.(17 8397959_?)_(?_2430 07457)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 178,397,959 | 243,007,457 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16254741 | GRCh37: NC_000002.11:g.(178397959_?)_(?_243007457)dup | copy number gain | unknown | See cases | Pathogenic | ClinVar | RCV001263052.1, VCV000983184.1 | 3 |