nsv3911757
- 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:1,342,512
- Description:GRCh38/hg38 17q21.32-21.33(chr17:47986886-49329397)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: 4413 SVs from 97 studies. See in: genome view
Overlapping variant regions from other studies: 4413 SVs from 97 studies. See in: genome view
Overlapping variant regions from other studies: 1078 SVs from 23 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3911757 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000017.11 | Chr17 | 47,986,886 | 49,329,397 |
| nsv3911757 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 46,064,252 | 47,406,759 |
| nsv3911757 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000017.9 | Chr17 | 43,419,251 | 44,761,758 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15146046 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000142900.4, VCV000154833.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15146046 | Submitted genomic | NC_000017.11:g.(?_ 47986886)_(4932939 7_?)del | GRCh38 (hg38) | NC_000017.11 | Chr17 | 47,986,886 | 49,329,397 |
| nssv15146046 | Submitted genomic | NC_000017.10:g.(?_ 46064252)_(4740675 9_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 46,064,252 | 47,406,759 |
| nssv15146046 | Submitted genomic | NC_000017.9:g.(?_4 3419251)_(44761758 _?)del | NCBI36 (hg18) | NC_000017.9 | Chr17 | 43,419,251 | 44,761,758 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15146046 | GRCh37: NC_000017.10:g.(?_46064252)_(47406759_?)del, GRCh38: NC_000017.11:g.(?_47986886)_(49329397_?)del, NCBI36: NC_000017.9:g.(?_43419251)_(44761758_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000142900.4, VCV000154833.2 | 1 |