nsv6637665
- 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:2,233,928
- Description:GRCh37/hg19 18p11.32-11.31(chr18:2255007-4488934)x1 AND not provided
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 7983 SVs from 106 studies. See in: genome view
Overlapping variant regions from other studies: 7985 SVs from 106 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6637665 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000018.10 | Chr18 | 2,255,007 | 4,488,934 |
| nsv6637665 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000018.9 | Chr18 | 2,255,007 | 4,488,934 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv18330286 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV002474546.1, VCV001808701.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18330286 | Remapped | Perfect | NC_000018.10:g.(?_ 2255007)_(4488934_ ?)del | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 2,255,007 | 4,488,934 |
| nssv18330286 | Submitted genomic | NC_000018.9:g.(?_2 255007)_(4488934_? )del | GRCh37 (hg19) | NC_000018.9 | Chr18 | 2,255,007 | 4,488,934 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv18330286 | GRCh37: NC_000018.9:g.(?_2255007)_(4488934_?)del | copy number loss | unknown | not provided | Pathogenic | ClinVar | RCV002474546.1, VCV001808701.1 | 1 |