nsv4349342
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:3,374,327
- Description:GRCh37/hg19 17p11.2(chr17:16842991-20217316) AND Smith-Magenis syndrome
- Publication(s):Schaefer et al. 2013, Smith et al. 2001
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 9456 SVs from 128 studies. See in: genome view
Overlapping variant regions from other studies: 9456 SVs from 128 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4349342 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 16,939,677 | 20,314,003 |
| nsv4349342 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 16,842,991 | 20,217,316 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15605914 | copy number loss | Multiple | Multiple | SMITH-MAGENIS SYNDROME; SMS; Smith-Magenis Syndrome; Smith-Magenis syndrome; Smith-Magenis syndrome | Pathogenic | ClinVar | RCV000767738.1, VCV000625730.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15605914 | Remapped | Perfect | NC_000017.11:g.(?_ 16939677)_(2031400 3_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 16,939,677 | 20,314,003 |
| nssv15605914 | Submitted genomic | NC_000017.10:g.(?_ 16842991)_(2021731 6_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 16,842,991 | 20,217,316 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15605914 | GRCh37: NC_000017.10:g.(?_16842991)_(20217316_?)del | copy number loss | germline | SMITH-MAGENIS SYNDROME; SMS; Smith-Magenis Syndrome; Smith-Magenis syndrome; Smith-Magenis syndrome | Pathogenic | ClinVar | RCV000767738.1, VCV000625730.1 |