nsv7148146
- 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:17,461,929
- Description:GRCh38/hg38 8p23.1-12(chr8:12721809-30183737)x1 AND Microcephaly
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 52753 SVs from 130 studies. See in: genome view
Overlapping variant regions from other studies: 52761 SVs from 130 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv7148146 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000008.11 | Chr8 | 12,721,809 | 30,183,737 | ||
| nsv7148146 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000008.10 | Chr8 | 12,579,318 | 30,041,253 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv18841929 | copy number loss | Multiple | Multiple | Microcephaly; Microcephaly | Pathogenic | ClinVar | RCV003327707.2, VCV002579268.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18841929 | Submitted genomic | NC_000008.11:g.127 21809_30183737del | GRCh38 (hg38) | NC_000008.11 | Chr8 | 12,721,809 | 30,183,737 | ||
| nssv18841929 | Remapped | Perfect | NC_000008.10:g.125 79318_30041253del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 12,579,318 | 30,041,253 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv18841929 | GRCh38: NC_000008.11:g.12721809_30183737del | copy number loss | unknown | Microcephaly; Microcephaly | Pathogenic | ClinVar | RCV003327707.2, VCV002579268.1 | 1 |