nsv7148042
- 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:3,925
- Description:NC_000001.11:g.12617576_12621500del 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: 100 SVs from 31 studies. See in: genome view
Overlapping variant regions from other studies: 100 SVs from 31 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv7148042 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000001.11 | Chr1 | 12,617,574 | 12,621,498 | ||
| nsv7148042 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000001.10 | Chr1 | 12,677,580 | 12,681,504 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv18841898 | deletion | Multiple | Multiple | Craniosynostoses; Craniosynostosis; Craniosynostosis; Craniosynostosis syndrome | Uncertain significance | ClinVar | RCV003326024.1, VCV002498151.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18841898 | Submitted genomic | NC_000001.11:g.126 17574_12621498del | GRCh38 (hg38) | NC_000001.11 | Chr1 | 12,617,574 | 12,621,498 | ||
| nssv18841898 | Remapped | Perfect | NC_000001.10:g.126 77580_12681504del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 12,677,580 | 12,681,504 |
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 |
|---|---|---|---|---|---|---|---|
| nssv18841898 | GRCh38: NC_000001.11:g.12617574_12621498del | deletion | biparental | Craniosynostoses; Craniosynostosis; Craniosynostosis; Craniosynostosis syndrome | Uncertain significance | ClinVar | RCV003326024.1, VCV002498151.1 |