nsv4728621
- 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:1,816,214
- Description:GRCh37/hg19 2p25.3(chr2:2074335-3934366)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: 6593 SVs from 104 studies. See in: genome view
Overlapping variant regions from other studies: 6566 SVs from 104 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4728621 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 2,070,563 | 3,886,776 |
| nsv4728621 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 2,074,335 | 3,934,366 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16255463 | copy number gain | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV001259634.1, VCV000980458.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16255463 | Remapped | Good | NC_000002.12:g.(?_ 2070563)_(3886776_ ?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 2,070,563 | 3,886,776 |
| nssv16255463 | Submitted genomic | NC_000002.11:g.(?_ 2074335)_(3934366_ ?)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 2,074,335 | 3,934,366 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16255463 | GRCh37: NC_000002.11:g.(?_2074335)_(3934366_?)dup | copy number gain | germline | not provided | Pathogenic | ClinVar | RCV001259634.1, VCV000980458.1 | 3 |