nsv3972399
- 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:10,731,323
- Description:GRCh37/hg19 17q24.1-25.2(chr17:64159738-74891024)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: 31852 SVs from 125 studies. See in: genome view
Overlapping variant regions from other studies: 31854 SVs from 125 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3972399 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 66,163,620 | 76,894,942 |
| nsv3972399 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 64,159,738 | 74,891,024 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15223205 | copy number gain | Multiple | Multiple | not provided | Likely pathogenic | ClinVar | RCV000762750.3, VCV000624519.3 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15223205 | Remapped | Perfect | NC_000017.11:g.(?_ 66163620)_(7689494 2_?)dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 66,163,620 | 76,894,942 |
| nssv15223205 | Submitted genomic | NC_000017.10:g.(?_ 64159738)_(7489102 4_?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 64,159,738 | 74,891,024 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15223205 | GRCh37: NC_000017.10:g.(?_64159738)_(74891024_?)dup | copy number gain | germline | not provided | Likely pathogenic | ClinVar | RCV000762750.3, VCV000624519.3 | 3 |