nsv3912159
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38, NCBI36
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:171,420
- Description:GRCh38/hg38 17q21.1(chr17:39876786-40048205)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: 675 SVs from 54 studies. See in: genome view
Overlapping variant regions from other studies: 675 SVs from 54 studies. See in: genome view
Overlapping variant regions from other studies: 156 SVs from 12 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3912159 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000017.11 | Chr17 | 39,876,786 | 40,048,205 |
| nsv3912159 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 38,033,039 | 38,204,458 |
| nsv3912159 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000017.9 | Chr17 | 35,286,565 | 35,457,984 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15137777 | copy number loss | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV000142465.4, VCV000154398.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15137777 | Submitted genomic | NC_000017.11:g.(?_ 39876786)_(4004820 5_?)del | GRCh38 (hg38) | NC_000017.11 | Chr17 | 39,876,786 | 40,048,205 |
| nssv15137777 | Submitted genomic | NC_000017.10:g.(?_ 38033039)_(3820445 8_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 38,033,039 | 38,204,458 |
| nssv15137777 | Submitted genomic | NC_000017.9:g.(?_3 5286565)_(35457984 _?)del | NCBI36 (hg18) | NC_000017.9 | Chr17 | 35,286,565 | 35,457,984 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15137777 | GRCh37: NC_000017.10:g.(?_38033039)_(38204458_?)del, GRCh38: NC_000017.11:g.(?_39876786)_(40048205_?)del, NCBI36: NC_000017.9:g.(?_35286565)_(35457984_?)del | copy number loss | not provided | See cases | Uncertain significance | ClinVar | RCV000142465.4, VCV000154398.2 | 1 |