nsv4675286
- 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:1,070,919
- Description:GRCh37/hg19 17q11.2(chr17:29088218-30159137)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: 3239 SVs from 92 studies. See in: genome view
Overlapping variant regions from other studies: 3240 SVs from 92 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4675286 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 30,761,200 | 31,832,118 |
| nsv4675286 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 29,088,218 | 30,159,137 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16208498 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV001006889.1, VCV000815923.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16208498 | Remapped | Perfect | NC_000017.11:g.(?_ 30761200)_(3183211 8_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 30,761,200 | 31,832,118 |
| nssv16208498 | Submitted genomic | NC_000017.10:g.(?_ 29088218)_(3015913 7_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 29,088,218 | 30,159,137 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16208498 | GRCh37: NC_000017.10:g.(?_29088218)_(30159137_?)del | copy number loss | germline | not provided | Pathogenic | ClinVar | RCV001006889.1, VCV000815923.1 | 1 |