nsv3913178
- 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:15,905,537
- Description:GRCh38/hg38 18p11.22-q11.2(chr18:8779843-24685379)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: 30115 SVs from 124 studies. See in: genome view
Overlapping variant regions from other studies: 29964 SVs from 124 studies. See in: genome view
Overlapping variant regions from other studies: 7318 SVs from 38 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3913178 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000018.10 | Chr18 | 8,779,843 | 24,685,379 |
| nsv3913178 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000018.9 | Chr18 | 8,779,841 | 22,265,343 |
| nsv3913178 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000018.8 | Chr18 | 8,769,841 | 20,519,341 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15146747 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000143075.5, VCV000155008.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15146747 | Submitted genomic | NC_000018.10:g.(?_ 8779843)_(24685379 _?)dup | GRCh38 (hg38) | NC_000018.10 | Chr18 | 8,779,843 | 24,685,379 |
| nssv15146747 | Submitted genomic | NC_000018.9:g.(?_8 779841)_(22265343_ ?)dup | GRCh37 (hg19) | NC_000018.9 | Chr18 | 8,779,841 | 22,265,343 |
| nssv15146747 | Submitted genomic | NC_000018.8:g.(?_8 769841)_(20519341_ ?)dup | NCBI36 (hg18) | NC_000018.8 | Chr18 | 8,769,841 | 20,519,341 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15146747 | GRCh37: NC_000018.9:g.(?_8779841)_(22265343_?)dup, GRCh38: NC_000018.10:g.(?_8779843)_(24685379_?)dup, NCBI36: NC_000018.8:g.(?_8769841)_(20519341_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000143075.5, VCV000155008.2 | 3 |