nsv4676396
- 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:10,279,155
- Description:GRCh37/hg19 18p11.32-11.21(chr18:971295-11250447)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: 30534 SVs from 128 studies. See in: genome view
Overlapping variant regions from other studies: 30539 SVs from 128 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4676396 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000018.10 | Chr18 | 971,294 | 11,250,448 |
| nsv4676396 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000018.9 | Chr18 | 971,295 | 11,250,447 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16208514 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV001006944.1, VCV000815978.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16208514 | Remapped | Perfect | NC_000018.10:g.(?_ 971294)_(11250448_ ?)del | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 971,294 | 11,250,448 |
| nssv16208514 | Submitted genomic | NC_000018.9:g.(?_9 71295)_(11250447_? )del | GRCh37 (hg19) | NC_000018.9 | Chr18 | 971,295 | 11,250,447 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16208514 | GRCh37: NC_000018.9:g.(?_971295)_(11250447_?)del | copy number loss | germline | not provided | Pathogenic | ClinVar | RCV001006944.1, VCV000815978.1 | 1 |