nsv6137755
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:6,167
- Description:NM_001457.4(FLNB):c.3127-354_4223-1836del AND Spondylocarpotarsal synostosis syndrome
- Publication(s):Robertson et al. 2008
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 88 SVs from 26 studies. See in: genome view
Overlapping variant regions from other studies: 88 SVs from 26 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nsv6137755 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000003.12 | Chr3 | 58,122,739 | 58,128,905 |
| nsv6137755 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 58,108,466 | 58,114,632 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17683478 | deletion | Multiple | Multiple | FLNB-Related Disorders; SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME; SCT; Spondylocarpotarsal synostosis; Spondylocarpotarsal synostosis syndrome | Pathogenic | ClinVar | RCV001580582.1, VCV000998081.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv17683478 | Submitted genomic | NC_000003.12:g.581 22739_58128905del | GRCh38 (hg38) | NC_000003.12 | Chr3 | 58,122,739 | 58,128,905 |
| nssv17683478 | Submitted genomic | NC_000003.11:g.581 08466_58114632del | GRCh37 (hg19) | NC_000003.11 | Chr3 | 58,108,466 | 58,114,632 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17683478 | GRCh37: NC_000003.11:g.58108466_58114632del, GRCh38: NC_000003.12:g.58122739_58128905del | deletion | inherited | FLNB-Related Disorders; SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME; SCT; Spondylocarpotarsal synostosis; Spondylocarpotarsal synostosis syndrome | Pathogenic | ClinVar | RCV001580582.1, VCV000998081.1 |