nsv4684241
- 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:1,034,299
- Description:GRCh37/hg19 17q11.2(chr17:29393104-30427403)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: 3066 SVs from 94 studies. See in: genome view
Overlapping variant regions from other studies: 3067 SVs from 94 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4684241 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 31,066,086 | 32,100,384 |
| nsv4684241 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 29,393,104 | 30,427,403 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16215274 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV001194568.1, VCV000929369.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16215274 | Remapped | Perfect | NC_000017.11:g.(?_ 31066086)_(3210038 4_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 31,066,086 | 32,100,384 |
| nssv16215274 | Submitted genomic | NC_000017.10:g.(?_ 29393104)_(3042740 3_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 29,393,104 | 30,427,403 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16215274 | GRCh37: NC_000017.10:g.(?_29393104)_(30427403_?)del | copy number loss | unknown | See cases | Pathogenic | ClinVar | RCV001194568.1, VCV000929369.1 | 1 |