nsv4728726
- 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:2,845,830
- Description:GRCh37/hg19 2p25.3-25.2(chr2:2529149-5511339)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: 9488 SVs from 114 studies. See in: genome view
Overlapping variant regions from other studies: 9456 SVs from 114 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4728726 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 2,525,377 | 5,371,206 |
| nsv4728726 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 2,529,149 | 5,511,339 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16254435 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV001259639.1, VCV000980463.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16254435 | Remapped | Good | NC_000002.12:g.(?_ 2525377)_(5371206_ ?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 2,525,377 | 5,371,206 |
| nssv16254435 | Submitted genomic | NC_000002.11:g.(?_ 2529149)_(5511339_ ?)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 2,529,149 | 5,511,339 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16254435 | GRCh37: NC_000002.11:g.(?_2529149)_(5511339_?)dup | copy number gain | germline | not provided | Uncertain significance | ClinVar | RCV001259639.1, VCV000980463.1 | 3 |