nsv6315275
- 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:15,462
- Description:NC_000017.10:g.(1665408_1670196)_(1680869_?)du
p AND not specified
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 161 SVs from 35 studies. See in: genome view
Overlapping variant regions from other studies: 161 SVs from 35 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|---|
| nsv6315275 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 1,762,114 | 1,766,902 | 1,777,575 |
| nsv6315275 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 1,665,408 | 1,670,196 | 1,680,869 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17976749 | duplication | Multiple | Multiple | not specified | Uncertain significance | ClinVar | RCV002283359.1, VCV001705034.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|---|
| nssv17976749 | Remapped | Perfect | NC_000017.11:g.(17 62114_1766902)_(17 77575_?)dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 1,762,114 | 1,766,902 | 1,777,575 |
| nssv17976749 | Submitted genomic | NC_000017.10:g.(16 65408_1670196)_(16 80869_?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 1,665,408 | 1,670,196 | 1,680,869 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17976749 | GRCh37: NC_000017.10:g.(1665408_1670196)_(1680869_?)dup | duplication | germline | not specified | Uncertain significance | ClinVar | RCV002283359.1, VCV001705034.1 |