nsv4768352
- 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:1,997,602
- Description:NC_000009.11:g.(?_139018777)_(141018984_?)del AND Kleefstra syndrome 1
- Publication(s):Kleefstra et al. 2010
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 10117 SVs from 119 studies. See in: genome view
Overlapping variant regions from other studies: 10047 SVs from 119 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4768352 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 136,126,931 | 138,124,532 |
| nsv4768352 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 139,018,777 | 141,018,984 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv16296996 | deletion | Multiple | Multiple | KLEEFSTRA SYNDROME 1; KLEFS1; Kleefstra Syndrome; Kleefstra syndrome; Kleefstra syndrome 1 | Pathogenic | ClinVar | RCV001267844.2, VCV000986753.2 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16296996 | Remapped | Good | NC_000009.12:g.(?_ 136126931)_(138124 532_?)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 136,126,931 | 138,124,532 |
| nssv16296996 | Submitted genomic | NC_000009.11:g.(?_ 139018777)_(141018 984_?)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 139,018,777 | 141,018,984 |
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 |
|---|---|---|---|---|---|---|---|
| nssv16296996 | GRCh37: NC_000009.11:g.(?_139018777)_(141018984_?)del | deletion | germline | KLEEFSTRA SYNDROME 1; KLEFS1; Kleefstra Syndrome; Kleefstra syndrome; Kleefstra syndrome 1 | Pathogenic | ClinVar | RCV001267844.2, VCV000986753.2 |