nsv7148047
- 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:353,646
- Description:NC_000001.11:g.63395673_63749318del AND Craniosynostosis syndrome
- Publication(s):Melville 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: 917 SVs from 60 studies. See in: genome view
Overlapping variant regions from other studies: 917 SVs from 60 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv7148047 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000001.11 | Chr1 | 63,395,673 | 63,749,318 | ||
| nsv7148047 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000001.10 | Chr1 | 63,861,344 | 64,214,989 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv18841901 | deletion | Multiple | Multiple | Craniosynostoses; Craniosynostosis; Craniosynostosis; Craniosynostosis syndrome | Uncertain significance | ClinVar | RCV003326057.1, VCV002498184.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18841901 | Submitted genomic | NC_000001.11:g.633 95673_63749318del | GRCh38 (hg38) | NC_000001.11 | Chr1 | 63,395,673 | 63,749,318 | ||
| nssv18841901 | Remapped | Perfect | NC_000001.10:g.638 61344_64214989del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 63,861,344 | 64,214,989 |
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 |
|---|---|---|---|---|---|---|---|
| nssv18841901 | GRCh38: NC_000001.11:g.63395673_63749318del | deletion | germline | Craniosynostoses; Craniosynostosis; Craniosynostosis; Craniosynostosis syndrome | Uncertain significance | ClinVar | RCV003326057.1, VCV002498184.1 |