nsv7148168
- 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:75,186
- Description:GRCh38/hg38 6q25.3(chr6:157036218-157111403)x1 AND Coffin-Siris syndrome 1
- Publication(s):Schrier Vergano et al. 2013, Vergano et al. 2019
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 213 SVs from 47 studies. See in: genome view
Overlapping variant regions from other studies: 213 SVs from 47 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv7148168 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000006.12 | Chr6 | 157,036,218 | 157,111,403 | ||
| nsv7148168 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000006.11 | Chr6 | 157,357,352 | 157,432,537 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv18841866 | copy number loss | Multiple | Multiple | COFFIN-SIRIS SYNDROME 1; CSS1; Coffin-Siris Syndrome; Coffin-Siris syndrome; MOVED TO 135900; Mental retardation, autosomal dominant 12 | Pathogenic | ClinVar | RCV003327608.1, VCV002579169.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18841866 | Submitted genomic | NC_000006.12:g.157 036218_157111403de l | GRCh38 (hg38) | NC_000006.12 | Chr6 | 157,036,218 | 157,111,403 | ||
| nssv18841866 | Remapped | Perfect | NC_000006.11:g.157 357352_157432537de l | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 157,357,352 | 157,432,537 |
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 | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv18841866 | GRCh38: NC_000006.12:g.157036218_157111403del | copy number loss | de novo | COFFIN-SIRIS SYNDROME 1; CSS1; Coffin-Siris Syndrome; Coffin-Siris syndrome; MOVED TO 135900; Mental retardation, autosomal dominant 12 | Pathogenic | ClinVar | RCV003327608.1, VCV002579169.1 | 1 |