nsv4578617
- 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:532,364
- Description:GRCh37/hg19 16q21(chr16:57499814-58032169)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: 1558 SVs from 80 studies. See in: genome view
Overlapping variant regions from other studies: 1557 SVs from 80 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4578617 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000016.10 | Chr16 | 57,465,902 | 57,998,265 |
| nsv4578617 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000016.9 | Chr16 | 57,499,814 | 58,032,169 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16091896 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV000996429.11, VCV000808175.17 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16091896 | Remapped | Good | NC_000016.10:g.(?_ 57465902)_(5799826 5_?)dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 57,465,902 | 57,998,265 |
| nssv16091896 | Submitted genomic | NC_000016.9:g.(?_5 7499814)_(58032169 _?)dup | GRCh37 (hg19) | NC_000016.9 | Chr16 | 57,499,814 | 58,032,169 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16091896 | GRCh37: NC_000016.9:g.(?_57499814)_(58032169_?)dup | copy number gain | germline | not provided | Uncertain significance | ClinVar | RCV000996429.11, VCV000808175.17 | 3 |