nsv3906075
- 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:14,077,789
- Description:GRCh37/hg19 17q24.2-25.3(chr17:67002415-81041938)x3 AND See cases
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 48605 SVs from 126 studies. See in: genome view
Overlapping variant regions from other studies: 48277 SVs from 126 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3906075 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 69,006,274 | 83,084,062 |
| nsv3906075 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 67,002,415 | 81,041,938 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15152233 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000512573.2, VCV000443488.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15152233 | Remapped | Good | NC_000017.11:g.(?_ 69006274)_(8308406 2_?)dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 69,006,274 | 83,084,062 |
| nssv15152233 | Submitted genomic | NC_000017.10:g.(?_ 67002415)_(8104193 8_?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 67,002,415 | 81,041,938 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15152233 | GRCh37: NC_000017.10:g.(?_67002415)_(81041938_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000512573.2, VCV000443488.2 | 3 |