nsv3921779
- 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:4,498,286
- Description:GRCh38/hg38 17p13.3-13.2(chr17:237248-4735533)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: 25150 SVs from 118 studies. See in: genome view
Overlapping variant regions from other studies: 21894 SVs from 116 studies. See in: genome view
Overlapping variant regions from other studies: 5486 SVs from 31 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3921779 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000017.11 | Chr17 | 237,248 | 4,735,533 |
| nsv3921779 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 396,627 | 4,638,828 |
| nsv3921779 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000017.9 | Chr17 | 87,039 | 4,585,577 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15138164 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000141559.4, VCV000153060.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15138164 | Submitted genomic | NC_000017.11:g.(?_ 237248)_(4735533_? )del | GRCh38 (hg38) | NC_000017.11 | Chr17 | 237,248 | 4,735,533 |
| nssv15138164 | Submitted genomic | NC_000017.10:g.(?_ 396627)_(4638828_? )del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 396,627 | 4,638,828 |
| nssv15138164 | Submitted genomic | NC_000017.9:g.(?_8 7039)_(4585577_?)d el | NCBI36 (hg18) | NC_000017.9 | Chr17 | 87,039 | 4,585,577 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15138164 | GRCh37: NC_000017.10:g.(?_396627)_(4638828_?)del, GRCh38: NC_000017.11:g.(?_237248)_(4735533_?)del, NCBI36: NC_000017.9:g.(?_87039)_(4585577_?)del | copy number loss | de novo | See cases | Pathogenic | ClinVar | RCV000141559.4, VCV000153060.1 | 1 |