nsv4676341
- 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:1,092,931
- Description:GRCh37/hg19 17q25.1-25.3(chr17:74509193-75602123)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: 4039 SVs from 92 studies. See in: genome view
Overlapping variant regions from other studies: 4039 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4676341 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 76,513,111 | 77,606,041 |
| nsv4676341 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 74,509,193 | 75,602,123 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16208508 | copy number loss | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV001006920.1, VCV000815954.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16208508 | Remapped | Perfect | NC_000017.11:g.(?_ 76513111)_(7760604 1_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 76,513,111 | 77,606,041 |
| nssv16208508 | Submitted genomic | NC_000017.10:g.(?_ 74509193)_(7560212 3_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 74,509,193 | 75,602,123 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16208508 | GRCh37: NC_000017.10:g.(?_74509193)_(75602123_?)del | copy number loss | germline | not provided | Uncertain significance | ClinVar | RCV001006920.1, VCV000815954.1 | 1 |