nsv3919243
- 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:23,856,947
- Description:GRCh38/hg38 18q21.31-23(chr18:56353040-80209986)x1 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: 79979 SVs from 132 studies. See in: genome view
Overlapping variant regions from other studies: 79866 SVs from 132 studies. See in: genome view
Overlapping variant regions from other studies: 20520 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 |
|---|---|---|---|---|---|---|---|
| nsv3919243 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000018.10 | Chr18 | 56,353,040 | 80,209,986 |
| nsv3919243 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000018.9 | Chr18 | 54,020,271 | 77,967,869 |
| nsv3919243 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000018.8 | Chr18 | 52,171,269 | 76,068,860 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15131770 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000053873.4, VCV000060001.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15131770 | Submitted genomic | NC_000018.10:g.(?_ 56353040)_(8020998 6_?)del | GRCh38 (hg38) | NC_000018.10 | Chr18 | 56,353,040 | 80,209,986 |
| nssv15131770 | Submitted genomic | NC_000018.9:g.(?_5 4020271)_(77967869 _?)del | GRCh37 (hg19) | NC_000018.9 | Chr18 | 54,020,271 | 77,967,869 |
| nssv15131770 | Submitted genomic | NC_000018.8:g.(?_5 2171269)_(76068860 _?)del | NCBI36 (hg18) | NC_000018.8 | Chr18 | 52,171,269 | 76,068,860 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15131770 | GRCh37: NC_000018.9:g.(?_54020271)_(77967869_?)del, GRCh38: NC_000018.10:g.(?_56353040)_(80209986_?)del, NCBI36: NC_000018.8:g.(?_52171269)_(76068860_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000053873.4, VCV000060001.1 | 1 |