nsv7136998
- 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:79,023
- Description:NC_000002.11:g.(?_50214717_50293739_?)del AND Pitt-Hopkins-like syndrome 2
- Publication(s):Harrison 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: 291 SVs from 43 studies. See in: genome view
Overlapping variant regions from other studies: 291 SVs from 43 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv7136998 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 49,987,579 | 50,066,601 |
| nsv7136998 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 50,214,717 | 50,293,739 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv18830742 | deletion | Multiple | Multiple | PITT-HOPKINS-LIKE SYNDROME 2; PTHSL2; Pitt Hopkins like syndrome; Pitt-Hopkins-like syndrome 2 | Pathogenic | ClinVar | RCV000022999.4, VCV000030096.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18830742 | Remapped | Perfect | NC_000002.12:g.499 87579_50066601del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 49,987,579 | 50,066,601 |
| nssv18830742 | Submitted genomic | NC_000002.11:g.502 14717_50293739del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 50,214,717 | 50,293,739 |
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 |
|---|---|---|---|---|---|---|---|
| nssv18830742 | GRCh37: NC_000002.11:g.50214717_50293739del | deletion | germline | PITT-HOPKINS-LIKE SYNDROME 2; PTHSL2; Pitt Hopkins like syndrome; Pitt-Hopkins-like syndrome 2 | Pathogenic | ClinVar | RCV000022999.4, VCV000030096.1 |