nsv4457866
- 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:15,654,519
- Description:GRCh37/hg19 18q21.1-21.33(chr18:45621155-61416536)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: 41237 SVs from 127 studies. See in: genome view
Overlapping variant regions from other studies: 41217 SVs from 127 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4457866 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000018.10 | Chr18 | 48,094,784 | 63,749,302 |
| nsv4457866 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000018.9 | Chr18 | 45,621,155 | 61,416,536 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15775313 | copy number gain | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV000847118.2, VCV000686410.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15775313 | Remapped | Good | NC_000018.10:g.(?_ 48094784)_(6374930 2_?)dup | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 48,094,784 | 63,749,302 |
| nssv15775313 | Submitted genomic | NC_000018.9:g.(?_4 5621155)_(61416536 _?)dup | GRCh37 (hg19) | NC_000018.9 | Chr18 | 45,621,155 | 61,416,536 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15775313 | GRCh37: NC_000018.9:g.(?_45621155)_(61416536_?)dup | copy number gain | unknown | not provided | Pathogenic | ClinVar | RCV000847118.2, VCV000686410.2 | 3 |