nsv4676155
- 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:28,818,888
- Description:GRCh37/hg19 18q11.2-21.2(chr18:20689919-49455212)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: 69731 SVs from 132 studies. See in: genome view
Overlapping variant regions from other studies: 69776 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4676155 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000018.10 | Chr18 | 23,109,955 | 51,928,842 |
| nsv4676155 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000018.9 | Chr18 | 20,689,919 | 49,455,212 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16207366 | copy number gain | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV001006980.1, VCV000816014.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16207366 | Remapped | Good | NC_000018.10:g.(?_ 23109955)_(5192884 2_?)dup | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 23,109,955 | 51,928,842 |
| nssv16207366 | Submitted genomic | NC_000018.9:g.(?_2 0689919)_(49455212 _?)dup | GRCh37 (hg19) | NC_000018.9 | Chr18 | 20,689,919 | 49,455,212 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16207366 | GRCh37: NC_000018.9:g.(?_20689919)_(49455212_?)dup | copy number gain | germline | not provided | Pathogenic | ClinVar | RCV001006980.1, VCV000816014.1 | 3 |