nsv4676102
- 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:212,356
- Description:GRCh37/hg19 17q24.3(chr17:68056381-68268736)x1 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: 855 SVs from 74 studies. See in: genome view
Overlapping variant regions from other studies: 855 SVs from 74 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4676102 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 70,060,240 | 70,272,595 |
| nsv4676102 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 68,056,381 | 68,268,736 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16208507 | copy number loss | Multiple | Multiple | not provided | Likely pathogenic | ClinVar | RCV001006915.1, VCV000815949.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16208507 | Remapped | Perfect | NC_000017.11:g.(?_ 70060240)_(7027259 5_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 70,060,240 | 70,272,595 |
| nssv16208507 | Submitted genomic | NC_000017.10:g.(?_ 68056381)_(6826873 6_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 68,056,381 | 68,268,736 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16208507 | GRCh37: NC_000017.10:g.(?_68056381)_(68268736_?)del | copy number loss | germline | not provided | Likely pathogenic | ClinVar | RCV001006915.1, VCV000815949.1 | 1 |