nsv3971839
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:9,000,000
- Description:NC_000012.12:g.(1_3750000)_(5250000_9000000)de
l AND Tumoral calcinosis, hyperphosphatemic, familial, 1 - Publication(s):Ramnitz et al. 2018
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 32173 SVs from 134 studies. See in: genome view
Overlapping variant regions from other studies: 31312 SVs from 134 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nsv3971839 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000012.12 | Chr12 | 1 | 3,750,000 | 5,250,000 | 9,000,000 | ||
| nsv3971839 | Remapped | Good | GRCh37.p13 | Primary Assembly | First Pass | NC_000012.11 | Chr12 | - | 282,465 | 9,152,596 | 9,152,596 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15222848 | deletion | Multiple | Multiple | Familial tumoral calcinosis; Hyperphosphatemic Familial Tumoral Calcinosis; TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1; HFTC1; Tumoral calcinosis, familial, hyperphosphatemic | not provided | ClinVar | RCV000758697.3, VCV000619591.2 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nssv15222848 | Submitted genomic | NC_000012.12:g.(1_ 3750000)_(5250000_ 9000000)del | GRCh38 (hg38) | NC_000012.12 | Chr12 | 1 | 3,750,000 | 5,250,000 | 9,000,000 | ||
| nssv15222848 | Remapped | Good | NC_000012.11:g.(?_ 282465)_(9152596_9 152596)del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | - | 282,465 | 9,152,596 | 9,152,596 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15222848 | GRCh38: NC_000012.12:g.(1_3750000)_(5250000_9000000)del | deletion | germline | Familial tumoral calcinosis; Hyperphosphatemic Familial Tumoral Calcinosis; TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1; HFTC1; Tumoral calcinosis, familial, hyperphosphatemic | not provided | ClinVar | RCV000758697.3, VCV000619591.2 |