nsv3904699
- 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:3,810,607
- Description:GRCh37/hg19 17p13.3-13.2(chr17:7214-3871323)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: 23468 SVs from 118 studies. See in: genome view
Overlapping variant regions from other studies: 20494 SVs from 116 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3904699 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 157,423 | 3,968,029 |
| nsv3904699 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 7,214 | 3,871,323 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15158929 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV000739319.2, VCV000602683.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15158929 | Remapped | Good | NC_000017.11:g.(?_ 157423)_(3968029_? )del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 157,423 | 3,968,029 |
| nssv15158929 | Submitted genomic | NC_000017.10:g.(?_ 7214)_(3871323_?)d el | GRCh37 (hg19) | NC_000017.10 | Chr17 | 7,214 | 3,871,323 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15158929 | GRCh37: NC_000017.10:g.(?_7214)_(3871323_?)del | copy number loss | de novo | not provided | Pathogenic | ClinVar | RCV000739319.2, VCV000602683.2 | 1 |