nsv4675321
- 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:3,176,353
- Description:GRCh37/hg19 17q11.1-11.2(chr17:25274363-28450707)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: 8099 SVs from 101 studies. See in: genome view
Overlapping variant regions from other studies: 8135 SVs from 102 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4675321 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 26,947,337 | 30,123,689 |
| nsv4675321 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 25,274,363 | 28,450,707 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16207316 | copy number gain | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV001006886.1, VCV000815920.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16207316 | Remapped | Perfect | NC_000017.11:g.(?_ 26947337)_(3012368 9_?)dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 26,947,337 | 30,123,689 |
| nssv16207316 | Submitted genomic | NC_000017.10:g.(?_ 25274363)_(2845070 7_?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 25,274,363 | 28,450,707 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16207316 | GRCh37: NC_000017.10:g.(?_25274363)_(28450707_?)dup | copy number gain | germline | not provided | Pathogenic | ClinVar | RCV001006886.1, VCV000815920.1 | 3 |