nsv4729869
- 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:14,175,958
- Description:GRCh37/hg19 18q22.1-23(chr18:63747519-78014123)x3 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: 52905 SVs from 132 studies. See in: genome view
Overlapping variant regions from other studies: 52786 SVs from 132 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4729869 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000018.10 | Chr18 | 66,080,283 | 80,256,240 |
| nsv4729869 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000018.9 | Chr18 | 63,747,519 | 78,014,123 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16255318 | copy number gain | Multiple | Multiple | not provided | Likely pathogenic | ClinVar | RCV001259360.1, VCV000980184.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16255318 | Remapped | Good | NC_000018.10:g.(?_ 66080283)_(8025624 0_?)dup | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 66,080,283 | 80,256,240 |
| nssv16255318 | Submitted genomic | NC_000018.9:g.(?_6 3747519)_(78014123 _?)dup | GRCh37 (hg19) | NC_000018.9 | Chr18 | 63,747,519 | 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 |
|---|---|---|---|---|---|---|---|---|
| nssv16255318 | GRCh37: NC_000018.9:g.(?_63747519)_(78014123_?)dup | copy number gain | germline | not provided | Likely pathogenic | ClinVar | RCV001259360.1, VCV000980184.1 | 3 |