nsv4453843
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:1,714,682
- Description:NC_000018.9:g.(?_55225777)_(56940458_?)dup AND not provided
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 5275 SVs from 99 studies. See in: genome view
Overlapping variant regions from other studies: 5275 SVs from 99 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv4453843 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000018.10 | Chr18 | 57,558,545 | 59,273,226 |
| nsv4453843 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000018.9 | Chr18 | 55,225,777 | 56,940,458 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15774116 | duplication | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV000821281.3, VCV000663413.2 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15774116 | Submitted genomic | NC_000018.10:g.(?_ 57558545)_(5927322 6_?)dup | GRCh38 (hg38) | NC_000018.10 | Chr18 | 57,558,545 | 59,273,226 |
| nssv15774116 | Submitted genomic | NC_000018.9:g.(?_5 5225777)_(56940458 _?)dup | GRCh37 (hg19) | NC_000018.9 | Chr18 | 55,225,777 | 56,940,458 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15774116 | GRCh37: NC_000018.9:g.(?_55225777)_(56940458_?)dup, GRCh38: NC_000018.10:g.(?_57558545)_(59273226_?)dup | duplication | germline | not provided | Uncertain significance | ClinVar | RCV000821281.3, VCV000663413.2 |