nsv4684245
- 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:4,605,187
- Description:GRCh37/hg19 17p13.1-12(chr17:10493837-15099023)x1 AND See cases
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 12975 SVs from 124 studies. See in: genome view
Overlapping variant regions from other studies: 12975 SVs from 124 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4684245 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 10,590,520 | 15,195,706 |
| nsv4684245 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 10,493,837 | 15,099,023 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16215326 | copy number loss | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV001195076.1, VCV000929830.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16215326 | Remapped | Perfect | NC_000017.11:g.(?_ 10590520)_(1519570 6_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 10,590,520 | 15,195,706 |
| nssv16215326 | Submitted genomic | NC_000017.10:g.(?_ 10493837)_(1509902 3_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 10,493,837 | 15,099,023 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16215326 | GRCh37: NC_000017.10:g.(?_10493837)_(15099023_?)del | copy number loss | maternal | See cases | Uncertain significance | ClinVar | RCV001195076.1, VCV000929830.1 | 1 |