nsv3923854
- 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:5,732,876
- Description:GRCh38/hg38 18q21.2-21.32(chr18:54857756-60590631)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: 15547 SVs from 120 studies. See in: genome view
Overlapping variant regions from other studies: 15548 SVs from 120 studies. See in: genome view
Overlapping variant regions from other studies: 3964 SVs from 33 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3923854 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000018.10 | Chr18 | 54,857,756 | 60,590,631 |
| nsv3923854 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000018.9 | Chr18 | 52,524,987 | 58,257,864 |
| nsv3923854 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000018.8 | Chr18 | 50,675,985 | 56,408,844 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15120389 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000136501.4, VCV000147283.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15120389 | Submitted genomic | NC_000018.10:g.(?_ 54857756)_(6059063 1_?)del | GRCh38 (hg38) | NC_000018.10 | Chr18 | 54,857,756 | 60,590,631 |
| nssv15120389 | Submitted genomic | NC_000018.9:g.(?_5 2524987)_(58257864 _?)del | GRCh37 (hg19) | NC_000018.9 | Chr18 | 52,524,987 | 58,257,864 |
| nssv15120389 | Submitted genomic | NC_000018.8:g.(?_5 0675985)_(56408844 _?)del | NCBI36 (hg18) | NC_000018.8 | Chr18 | 50,675,985 | 56,408,844 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15120389 | GRCh37: NC_000018.9:g.(?_52524987)_(58257864_?)del, GRCh38: NC_000018.10:g.(?_54857756)_(60590631_?)del, NCBI36: NC_000018.8:g.(?_50675985)_(56408844_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000136501.4, VCV000147283.2 | 1 |