nsv3924638
- 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:53,729,328
- Description:GRCh38/hg38 18q11.1-22.3(chr18:20962119-74691446)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: 141525 SVs from 138 studies. See in: genome view
Overlapping variant regions from other studies: 141526 SVs from 138 studies. See in: genome view
Overlapping variant regions from other studies: 36124 SVs from 40 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3924638 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000018.10 | Chr18 | 20,962,119 | 74,691,446 |
| nsv3924638 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000018.9 | Chr18 | 18,542,080 | 72,403,402 |
| nsv3924638 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000018.8 | Chr18 | 16,796,078 | 70,532,390 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15139135 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000143057.4, VCV000154990.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15139135 | Submitted genomic | NC_000018.10:g.(?_ 20962119)_(7469144 6_?)dup | GRCh38 (hg38) | NC_000018.10 | Chr18 | 20,962,119 | 74,691,446 |
| nssv15139135 | Submitted genomic | NC_000018.9:g.(?_1 8542080)_(72403402 _?)dup | GRCh37 (hg19) | NC_000018.9 | Chr18 | 18,542,080 | 72,403,402 |
| nssv15139135 | Submitted genomic | NC_000018.8:g.(?_1 6796078)_(70532390 _?)dup | NCBI36 (hg18) | NC_000018.8 | Chr18 | 16,796,078 | 70,532,390 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15139135 | GRCh37: NC_000018.9:g.(?_18542080)_(72403402_?)dup, GRCh38: NC_000018.10:g.(?_20962119)_(74691446_?)dup, NCBI36: NC_000018.8:g.(?_16796078)_(70532390_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000143057.4, VCV000154990.2 | 3 |