nsv4729851
- 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:7,088,322
- Description:GRCh37/hg19 18q22.3-23(chr18:70835154-78014123)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: 29353 SVs from 124 studies. See in: genome view
Overlapping variant regions from other studies: 29233 SVs from 124 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4729851 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000018.10 | Chr18 | 73,167,919 | 80,256,240 |
| nsv4729851 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000018.9 | Chr18 | 70,835,154 | 78,014,123 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16255320 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV001259363.1, VCV000980187.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16255320 | Remapped | Good | NC_000018.10:g.(?_ 73167919)_(8025624 0_?)del | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 73,167,919 | 80,256,240 |
| nssv16255320 | Submitted genomic | NC_000018.9:g.(?_7 0835154)_(78014123 _?)del | GRCh37 (hg19) | NC_000018.9 | Chr18 | 70,835,154 | 78,014,123 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16255320 | GRCh37: NC_000018.9:g.(?_70835154)_(78014123_?)del | copy number loss | germline | not provided | Pathogenic | ClinVar | RCV001259363.1, VCV000980187.1 | 1 |