nsv3912763
- 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:3,009,947
- Description:GRCh38/hg38 17q21.32-22(chr17:49137864-52147810)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: 7929 SVs from 100 studies. See in: genome view
Overlapping variant regions from other studies: 7931 SVs from 100 studies. See in: genome view
Overlapping variant regions from other studies: 2059 SVs from 28 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3912763 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000017.11 | Chr17 | 49,137,864 | 52,147,810 |
| nsv3912763 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 47,215,226 | 50,225,170 |
| nsv3912763 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000017.9 | Chr17 | 44,570,225 | 47,580,169 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15120738 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000053432.5, VCV000059589.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15120738 | Submitted genomic | NC_000017.11:g.(?_ 49137864)_(5214781 0_?)del | GRCh38 (hg38) | NC_000017.11 | Chr17 | 49,137,864 | 52,147,810 |
| nssv15120738 | Submitted genomic | NC_000017.10:g.(?_ 47215226)_(5022517 0_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 47,215,226 | 50,225,170 |
| nssv15120738 | Submitted genomic | NC_000017.9:g.(?_4 4570225)_(47580169 _?)del | NCBI36 (hg18) | NC_000017.9 | Chr17 | 44,570,225 | 47,580,169 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15120738 | GRCh37: NC_000017.10:g.(?_47215226)_(50225170_?)del, GRCh38: NC_000017.11:g.(?_49137864)_(52147810_?)del, NCBI36: NC_000017.9:g.(?_44570225)_(47580169_?)del | copy number loss | de novo | See cases | Pathogenic | ClinVar | RCV000053432.5, VCV000059589.1 | 1 |