nsv4453311
- 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:4,282,345
- Description:NC_000009.11:g.(?_134379574)_(138678377_?)dup AND Ehlers-Danlos syndrome, classic type
- Publication(s):Malfait et al. 2007
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 17201 SVs from 125 studies. See in: genome view
Overlapping variant regions from other studies: 17070 SVs from 125 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4453311 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 131,504,187 | 135,786,531 |
| nsv4453311 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 134,379,574 | 138,678,377 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15773995 | duplication | Multiple | Multiple | Classic Ehlers-Danlos Syndrome; Classical Ehlers-Danlos syndrome; Ehlers-Danlos syndrome, classic type | Uncertain significance | ClinVar | RCV000807925.3, VCV000652388.3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15773995 | Remapped | Good | NC_000009.12:g.(?_ 131504187)_(135786 531_?)dup | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 131,504,187 | 135,786,531 |
| nssv15773995 | Submitted genomic | NC_000009.11:g.(?_ 134379574)_(138678 377_?)dup | GRCh37 (hg19) | NC_000009.11 | Chr9 | 134,379,574 | 138,678,377 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15773995 | GRCh37: NC_000009.11:g.(?_134379574)_(138678377_?)dup | duplication | germline | Classic Ehlers-Danlos Syndrome; Classical Ehlers-Danlos syndrome; Ehlers-Danlos syndrome, classic type | Uncertain significance | ClinVar | RCV000807925.3, VCV000652388.3 |