nsv3919152
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38, NCBI36
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:42,376
- Description:GRCh38/hg38 18q23(chr18:80086715-80129090)x3 AND See cases
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 320 SVs from 39 studies. See in: genome view
Overlapping variant regions from other studies: 324 SVs from 39 studies. See in: genome view
Overlapping variant regions from other studies: 198 SVs from 16 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3919152 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000018.10 | Chr18 | 80,086,715 | 80,129,090 |
| nsv3919152 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000018.9 | Chr18 | 77,844,623 | 77,886,973 |
| nsv3919152 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000018.8 | Chr18 | 75,945,611 | 75,987,964 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15135539 | copy number gain | Multiple | Multiple | See cases | Likely benign | ClinVar | RCV000138496.4, VCV000149481.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15135539 | Submitted genomic | NC_000018.10:g.(?_ 80086715)_(8012909 0_?)dup | GRCh38 (hg38) | NC_000018.10 | Chr18 | 80,086,715 | 80,129,090 |
| nssv15135539 | Submitted genomic | NC_000018.9:g.(?_7 7844623)_(77886973 _?)dup | GRCh37 (hg19) | NC_000018.9 | Chr18 | 77,844,623 | 77,886,973 |
| nssv15135539 | Submitted genomic | NC_000018.8:g.(?_7 5945611)_(75987964 _?)dup | NCBI36 (hg18) | NC_000018.8 | Chr18 | 75,945,611 | 75,987,964 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15135539 | GRCh37: NC_000018.9:g.(?_77844623)_(77886973_?)dup, GRCh38: NC_000018.10:g.(?_80086715)_(80129090_?)dup, NCBI36: NC_000018.8:g.(?_75945611)_(75987964_?)dup | copy number gain | not provided | See cases | Likely benign | ClinVar | RCV000138496.4, VCV000149481.2 | 3 |