nsv4684401
- 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:14,685
- Description:
NG_007459.1:g.45924_60608delinsCA AND Metachondromatosis - Publication(s):Bowen et al. 2011
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 98 SVs from 28 studies. See in: genome view
Overlapping variant regions from other studies: 98 SVs from 28 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nsv4684401 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000012.12 | Chr12 | 112,459,655 | 112,474,339 |
| nsv4684401 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 112,897,459 | 112,912,143 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15161259 | delins | Multiple | Multiple | METACHONDROMATOSIS; METCDS; Metachondromatosis; Metachondromatosis | Pathogenic | ClinVar | RCV000024263.26, VCV000031555.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv15161259 | Submitted genomic | NC_000012.12:g.112 459655_112474339de linsCA | GRCh38 (hg38) | NC_000012.12 | Chr12 | 112,459,655 | 112,474,339 |
| nssv15161259 | Submitted genomic | NC_000012.11:g.112 897459_112912143de linsCA | GRCh37 (hg19) | NC_000012.11 | Chr12 | 112,897,459 | 112,912,143 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15161259 | GRCh37: NC_000012.11:g.112897459_112912143delinsCA, GRCh38: NC_000012.12:g.112459655_112474339delinsCA | delins | germline | METACHONDROMATOSIS; METCDS; Metachondromatosis; Metachondromatosis | Pathogenic | ClinVar | RCV000024263.26, VCV000031555.1 |