nsv4676104
- 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:5,369,174
- Description:GRCh37/hg19 17q25.1-25.3(chr17:73261871-78608763)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: 18924 SVs from 116 studies. See in: genome view
Overlapping variant regions from other studies: 18661 SVs from 116 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4676104 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 75,265,790 | 80,634,963 |
| nsv4676104 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 73,261,871 | 78,608,763 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16207334 | copy number gain | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV001006919.1, VCV000815953.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16207334 | Remapped | Good | NC_000017.11:g.(?_ 75265790)_(8063496 3_?)dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 75,265,790 | 80,634,963 |
| nssv16207334 | Submitted genomic | NC_000017.10:g.(?_ 73261871)_(7860876 3_?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 73,261,871 | 78,608,763 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16207334 | GRCh37: NC_000017.10:g.(?_73261871)_(78608763_?)dup | copy number gain | germline | not provided | Pathogenic | ClinVar | RCV001006919.1, VCV000815953.1 | 3 |