nsv7097697
- 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:4,770,087
- Description:NC_000009.11:g.(?_136218768)_(141016451_?)dup 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: 22332 SVs from 128 studies. See in: genome view
Overlapping variant regions from other studies: 22125 SVs from 128 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv7097697 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 133,351,913 | 138,121,999 |
| nsv7097697 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 136,218,768 | 141,016,451 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv18787712 | duplication | Multiple | Multiple | KLEEFSTRA SYNDROME 1; KLEFS1; Kleefstra Syndrome; Kleefstra syndrome; Kleefstra syndrome 1 | Uncertain significance | ClinVar | RCV003122719.2, VCV002426886.3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18787712 | Remapped | Good | NC_000009.12:g.(?_ 133351913)_(138121 999_?)dup | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 133,351,913 | 138,121,999 |
| nssv18787712 | Submitted genomic | NC_000009.11:g.(?_ 136218768)_(141016 451_?)dup | GRCh37 (hg19) | NC_000009.11 | Chr9 | 136,218,768 | 141,016,451 |
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 |
|---|---|---|---|---|---|---|---|
| nssv18787712 | GRCh37: NC_000009.11:g.(?_136218768)_(141016451_?)dup | duplication | germline | KLEEFSTRA SYNDROME 1; KLEFS1; Kleefstra Syndrome; Kleefstra syndrome; Kleefstra syndrome 1 | Uncertain significance | ClinVar | RCV003122719.2, VCV002426886.3 |