nsv4681739
- 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:1,072
- Description:NC_000012.12:g.(?_57750646)_(57751717_?)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: 132 SVs from 28 studies. See in: genome view
Overlapping variant regions from other studies: 132 SVs from 28 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4681739 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 57,750,646 | 57,751,717 |
| nsv4681739 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 58,144,429 | 58,145,500 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv16214306 | duplication | Multiple | Multiple | Hereditary cutaneous melanoma | Uncertain significance | ClinVar | RCV001032961.4, VCV000832478.4 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16214306 | Remapped | Perfect | NC_000012.12:g.(?_ 57750646)_(5775171 7_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 57,750,646 | 57,751,717 |
| nssv16214306 | Submitted genomic | NC_000012.11:g.(?_ 58144429)_(5814550 0_?)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 58,144,429 | 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 |
|---|---|---|---|---|---|---|---|
| nssv16214306 | GRCh37: NC_000012.11:g.(?_58144429)_(58145500_?)dup | duplication | germline | Hereditary cutaneous melanoma | Uncertain significance | ClinVar | RCV001032961.4, VCV000832478.4 |