nsv7098885
- 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:396,652
- Description:
GRCh37/hg19 17p13.3(chr17:1-450099) 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: 5162 SVs from 101 studies. See in: genome view
Overlapping variant regions from other studies: 1837 SVs from 70 studies. See in: genome view
Overlapping variant regions from other studies: 2162 SVs from 85 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv7098885 | Remapped | Pass | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 150,208 | 546,859 |
| nsv7098885 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NW_003315952.3 | Chr17|NW_0 03315952.3 | 90,208 | 375,691 |
| nsv7098885 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 1 | 450,099 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv18792750 | copy number gain | Multiple | Multiple | not specified | Uncertain significance | ClinVar | RCV003159576.1, VCV002446822.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18792750 | Remapped | Pass | NW_003315952.3:g.9 0208_375691dup | GRCh38.p12 | Second Pass | NW_003315952.3 | Chr17|NW_0 03315952.3 | 90,208 | 375,691 |
| nssv18792750 | Remapped | Pass | NC_000017.11:g.150 208_546859dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 150,208 | 546,859 |
| nssv18792750 | Submitted genomic | NC_000017.10:g.1_4 50099dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 1 | 450,099 |
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 |
|---|---|---|---|---|---|---|---|
| nssv18792750 | GRCh37: NC_000017.10:g.1_450099dup | copy number gain | germline | not specified | Uncertain significance | ClinVar | RCV003159576.1, VCV002446822.1 |