nsv4436312
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:complex substitution
- Method Type:Multiple
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:32,678,051
- Description:maternal UPD(16p) AND Hemimegalencephaly
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 104154 SVs from 150 studies. See in: genome view
Overlapping variant regions from other studies: 104291 SVs from 150 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4436312 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000016.10 | Chr16 | 1,230,041 | 33,908,091 |
| nsv4436312 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000016.9 | Chr16 | 1,280,042 | 33,710,558 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15754778 | complex substitution | Multiple | Multiple | Hemimegalencephaly; Hemimegalencephaly | Pathogenic | ClinVar | RCV000494707.1, VCV000375693.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|
| nssv15754778 | Remapped | Good | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 1,230,041 | 33,908,091 |
| nssv15754778 | Submitted genomic | GRCh37 (hg19) | NC_000016.9 | Chr16 | 1,280,042 | 33,710,558 |
No validation data were submitted for this variant
Clinical Assertions
| Variant Call ID | Type | Allele Origin | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|
| nssv15754778 | complex substitution | somatic | Hemimegalencephaly; Hemimegalencephaly | Pathogenic | ClinVar | RCV000494707.1, VCV000375693.1 |