nsv4769271
- 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:16,120
- Description:NC_000009.12:g.137729445_137745564dup 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: 157 SVs from 36 studies. See in: genome view
Overlapping variant regions from other studies: 157 SVs from 36 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4769271 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000009.12 | Chr9 | 137,729,444 | 137,745,563 | ||
| nsv4769271 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000009.11 | Chr9 | 140,623,896 | 140,640,015 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv16297023 | duplication | Multiple | Multiple | KLEEFSTRA SYNDROME 1; KLEFS1; Kleefstra Syndrome; Kleefstra syndrome; Kleefstra syndrome 1 | Pathogenic | ClinVar | RCV001269480.2, VCV000988097.2 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16297023 | Submitted genomic | NC_000009.12:g.137 729444_137745563du p | GRCh38 (hg38) | NC_000009.12 | Chr9 | 137,729,444 | 137,745,563 | ||
| nssv16297023 | Remapped | Perfect | NC_000009.11:g.140 623896_140640015du p | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 140,623,896 | 140,640,015 |
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 |
|---|---|---|---|---|---|---|---|
| nssv16297023 | GRCh38: NC_000009.12:g.137729444_137745563dup | duplication | paternal | KLEEFSTRA SYNDROME 1; KLEFS1; Kleefstra Syndrome; Kleefstra syndrome; Kleefstra syndrome 1 | Pathogenic | ClinVar | RCV001269480.2, VCV000988097.2 |