nsv6290021
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:delins
- Method Type:Multiple
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:62,788
- Description:NC_000002.12:g.118554361_118617148delins118227
316_118229892 AND ENDOVES (EN1-associated dorsoventral syndrome)
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 199 SVs from 39 studies. See in: genome view
Overlapping variant regions from other studies: 199 SVs from 39 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6290021 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000002.12 | Chr2 | 118,554,361 | 118,617,148 | ||
| nsv6290021 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000002.11 | Chr2 | 119,311,937 | 119,374,724 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17955532 | delins | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV001270920.1, VCV000989395.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17955532 | Submitted genomic | NC_000002.12:g.118 554361_118617148de lins? | GRCh38 (hg38) | NC_000002.12 | Chr2 | 118,554,361 | 118,617,148 | ||
| nssv17955532 | Remapped | Perfect | NC_000002.11:g.119 311937_119374724de lins? | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 119,311,937 | 119,374,724 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17955532 | GRCh38: NC_000002.12:g.118554361_118617148delins? | delins | inherited | See cases | Pathogenic | ClinVar | RCV001270920.1, VCV000989395.1 |