nsv6309262
- 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:35,982
- Description:NC_000012.11:g.(?_2659099)_(2695080_?)dup AND Long QT syndrome
- Publication(s):Alders et al. 2003, Miller et al. 2022, Priori et al. 2013
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 173 SVs from 46 studies. See in: genome view
Overlapping variant regions from other studies: 67 SVs from 24 studies. See in: genome view
Overlapping variant regions from other studies: 173 SVs from 46 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6309262 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 2,549,933 | 2,585,914 |
| nsv6309262 | Remapped | Perfect | GRCh38.p12 | PATCHES | Second Pass | NW_018654718.1 | Chr12|NW_0 18654718.1 | 898,049 | 934,030 |
| nsv6309262 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 2,659,099 | 2,695,080 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17974217 | duplication | Multiple | Multiple | Long QT Syndrome; Long QT Syndrome; Long QT syndrome; Long QT syndrome; Prolonged QT interval | Uncertain significance | ClinVar | RCV001875109.3, VCV001373279.3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17974217 | Remapped | Perfect | NW_018654718.1:g.( ?_898049)_(934030_ ?)dup | GRCh38.p12 | Second Pass | NW_018654718.1 | Chr12|NW_0 18654718.1 | 898,049 | 934,030 |
| nssv17974217 | Remapped | Perfect | NC_000012.12:g.(?_ 2549933)_(2585914_ ?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 2,549,933 | 2,585,914 |
| nssv17974217 | Submitted genomic | NC_000012.11:g.(?_ 2659099)_(2695080_ ?)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 2,659,099 | 2,695,080 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17974217 | GRCh37: NC_000012.11:g.(?_2659099)_(2695080_?)dup | duplication | germline | Long QT Syndrome; Long QT Syndrome; Long QT syndrome; Long QT syndrome; Prolonged QT interval | Uncertain significance | ClinVar | RCV001875109.3, VCV001373279.3 |