nsv4684390
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:delins
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:20,982
- Description:NM_018112.3(TMEM38B):c.454+279_543-5092delinsA
ATTAAGGTATA AND Osteogenesis imperfecta type 14 - Publication(s):Shaheen et al. 2012, Volodarsky et al. 2013
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 148 SVs from 37 studies. See in: genome view
Overlapping variant regions from other studies: 148 SVs from 37 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nsv4684390 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000009.12 | Chr9 | 105,722,000 | 105,742,981 |
| nsv4684390 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 108,484,281 | 108,505,262 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15120265 | delins | Multiple | Multiple | OSTEOGENESIS IMPERFECTA, TYPE XIV; OI14; Osteogenesis imperfecta; Osteogenesis imperfecta, type xiv | Pathogenic | ClinVar | RCV000032690.5, VCV000039494.3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv15120265 | Submitted genomic | NC_000009.12:g.105 722000_105742981de linsAATTAAGGTATA | GRCh38 (hg38) | NC_000009.12 | Chr9 | 105,722,000 | 105,742,981 |
| nssv15120265 | Submitted genomic | NC_000009.11:g.108 484281_108505262de linsAATTAAGGTATA | GRCh37 (hg19) | NC_000009.11 | Chr9 | 108,484,281 | 108,505,262 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15120265 | GRCh37: NC_000009.11:g.108484281_108505262delinsAATTAAGGTATA, GRCh38: NC_000009.12:g.105722000_105742981delinsAATTAAGGTATA | delins | germline | OSTEOGENESIS IMPERFECTA, TYPE XIV; OI14; Osteogenesis imperfecta; Osteogenesis imperfecta, type xiv | Pathogenic | ClinVar | RCV000032690.5, VCV000039494.3 |