nsv6289840
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:44,719
- Description:
NC_000012.12:g.2044152_2088870del AND multiple conditions
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 237 SVs from 50 studies. See in: genome view
Overlapping variant regions from other studies: 138 SVs from 32 studies. See in: genome view
Overlapping variant regions from other studies: 237 SVs from 50 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6289840 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 2,044,152 | 2,088,870 |
| nsv6289840 | Remapped | Perfect | GRCh38.p12 | PATCHES | Second Pass | NW_018654718.1 | Chr12|NW_0 18654718.1 | 386,296 | 431,014 |
| nsv6289840 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 2,153,318 | 2,198,036 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17955509 | deletion | Multiple | Multiple | Delayed fine motor development; Delayed fine motor development; Expressive language delay; Expressive language delay; Intention tremor; Intention tremor; Joint laxity; Joint laxity; Motor delay; Motor delay | Likely pathogenic | ClinVar | RCV000853498.2, VCV000692154.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17955509 | Remapped | Perfect | NW_018654718.1:g.3 86296_431014del | GRCh38.p12 | Second Pass | NW_018654718.1 | Chr12|NW_0 18654718.1 | 386,296 | 431,014 |
| nssv17955509 | Remapped | Perfect | NC_000012.12:g.204 4152_2088870del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 2,044,152 | 2,088,870 |
| nssv17955509 | Submitted genomic | NC_000012.11:g.215 3318_2198036del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 2,153,318 | 2,198,036 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17955509 | GRCh37: NC_000012.11:g.2153318_2198036del | deletion | de novo | Delayed fine motor development; Delayed fine motor development; Expressive language delay; Expressive language delay; Intention tremor; Intention tremor; Joint laxity; Joint laxity; Motor delay; Motor delay | Likely pathogenic | ClinVar | RCV000853498.2, VCV000692154.1 |