nsv5380902
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:4,991
- Description:NC_000012.11:g.(?_58140510)_(58145500_?)dup AND Familial melanoma
- Publication(s):No authors et al. 2021, No authors et al. 2021
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 144 SVs from 31 studies. See in: genome view
Overlapping variant regions from other studies: 144 SVs from 31 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5380902 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 57,746,727 | 57,751,717 |
| nsv5380902 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 58,140,510 | 58,145,500 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv16867303 | duplication | Multiple | Multiple | Hereditary cutaneous melanoma | Uncertain significance | ClinVar | RCV001348763.2, VCV001044516.2 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16867303 | Remapped | Perfect | NC_000012.12:g.(?_ 57746727)_(5775171 7_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 57,746,727 | 57,751,717 |
| nssv16867303 | Submitted genomic | NC_000012.11:g.(?_ 58140510)_(5814550 0_?)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 58,140,510 | 58,145,500 |
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 |
|---|---|---|---|---|---|---|---|
| nssv16867303 | GRCh37: NC_000012.11:g.(?_58140510)_(58145500_?)dup | duplication | germline | Hereditary cutaneous melanoma | Uncertain significance | ClinVar | RCV001348763.2, VCV001044516.2 |