nsv3920880
- 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:6,833,077
- Description:GRCh38/hg38 17q21.33-22(chr17:49974533-56807609)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: 16337 SVs from 118 studies. See in: genome view
Overlapping variant regions from other studies: 16339 SVs from 118 studies. See in: genome view
Overlapping variant regions from other studies: 4586 SVs from 32 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3920880 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000017.11 | Chr17 | 49,974,533 | 56,807,609 |
| nsv3920880 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 48,051,897 | 54,884,970 |
| nsv3920880 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000017.9 | Chr17 | 45,406,896 | 52,239,969 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15132970 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000053433.5, VCV000059590.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15132970 | Submitted genomic | NC_000017.11:g.(?_ 49974533)_(5680760 9_?)del | GRCh38 (hg38) | NC_000017.11 | Chr17 | 49,974,533 | 56,807,609 |
| nssv15132970 | Submitted genomic | NC_000017.10:g.(?_ 48051897)_(5488497 0_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 48,051,897 | 54,884,970 |
| nssv15132970 | Submitted genomic | NC_000017.9:g.(?_4 5406896)_(52239969 _?)del | NCBI36 (hg18) | NC_000017.9 | Chr17 | 45,406,896 | 52,239,969 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15132970 | GRCh37: NC_000017.10:g.(?_48051897)_(54884970_?)del, GRCh38: NC_000017.11:g.(?_49974533)_(56807609_?)del, NCBI36: NC_000017.9:g.(?_45406896)_(52239969_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000053433.5, VCV000059590.1 | 1 |