nsv3918295
- 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:3,595,696
- Description:GRCh38/hg38 20q13.2-13.32(chr20:54594888-58190583)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: 10800 SVs from 101 studies. See in: genome view
Overlapping variant regions from other studies: 10746 SVs from 101 studies. See in: genome view
Overlapping variant regions from other studies: 2634 SVs from 27 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3918295 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000020.11 | Chr20 | 54,594,888 | 58,190,583 |
| nsv3918295 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000020.10 | Chr20 | 53,211,427 | 56,765,639 |
| nsv3918295 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000020.9 | Chr20 | 52,644,834 | 56,199,045 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15122174 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000141033.3, VCV000152492.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15122174 | Submitted genomic | NC_000020.11:g.(?_ 54594888)_(5819058 3_?)del | GRCh38 (hg38) | NC_000020.11 | Chr20 | 54,594,888 | 58,190,583 |
| nssv15122174 | Submitted genomic | NC_000020.10:g.(?_ 53211427)_(5676563 9_?)del | GRCh37 (hg19) | NC_000020.10 | Chr20 | 53,211,427 | 56,765,639 |
| nssv15122174 | Submitted genomic | NC_000020.9:g.(?_5 2644834)_(56199045 _?)del | NCBI36 (hg18) | NC_000020.9 | Chr20 | 52,644,834 | 56,199,045 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15122174 | GRCh37: NC_000020.10:g.(?_53211427)_(56765639_?)del, GRCh38: NC_000020.11:g.(?_54594888)_(58190583_?)del, NCBI36: NC_000020.9:g.(?_52644834)_(56199045_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000141033.3, VCV000152492.1 | 1 |