nsv3913486
- 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:990,324
- Description:GRCh38/hg38 17q21.32-21.33(chr17:48520885-49511208)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: 3365 SVs from 93 studies. See in: genome view
Overlapping variant regions from other studies: 3365 SVs from 93 studies. See in: genome view
Overlapping variant regions from other studies: 809 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 |
|---|---|---|---|---|---|---|---|
| nsv3913486 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000017.11 | Chr17 | 48,520,885 | 49,511,208 |
| nsv3913486 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 46,598,247 | 47,588,570 |
| nsv3913486 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000017.9 | Chr17 | 43,953,246 | 44,943,569 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15146525 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000053431.5, VCV000059588.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15146525 | Submitted genomic | NC_000017.11:g.(?_ 48520885)_(4951120 8_?)del | GRCh38 (hg38) | NC_000017.11 | Chr17 | 48,520,885 | 49,511,208 |
| nssv15146525 | Submitted genomic | NC_000017.10:g.(?_ 46598247)_(4758857 0_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 46,598,247 | 47,588,570 |
| nssv15146525 | Submitted genomic | NC_000017.9:g.(?_4 3953246)_(44943569 _?)del | NCBI36 (hg18) | NC_000017.9 | Chr17 | 43,953,246 | 44,943,569 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15146525 | GRCh37: NC_000017.10:g.(?_46598247)_(47588570_?)del, GRCh38: NC_000017.11:g.(?_48520885)_(49511208_?)del, NCBI36: NC_000017.9:g.(?_43953246)_(44943569_?)del | copy number loss | maternal | See cases | Pathogenic | ClinVar | RCV000053431.5, VCV000059588.1 | 1 |