nsv6310233
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:1,284
- Description:
See descriptions for individual calls in download files - Publication(s):Ackerman et al. 2011, Alders et al. 2003, Burgunder et al. 2010, Veerapandiyan et al. 2004
- ClinVar: RCV002014368.2
- ClinVar: RCV003105370.2
- ClinVar: VCV001511120.2
- ClinVar: VCV002423433.2
- GeneReviews: NBK1264
- MONDO: 0008222
- MONDO: 0012314
- MedGen: C1563715
- MedGen: C1865018
- OMIM: 170390
- OMIM: 609622
- Orphanet: 37553
- Orphanet: 51083
- PubMed: 20298421
- PubMed: 20301308
- PubMed: 20301441
- PubMed: 21810866
- Overlapping Genes
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 83 SVs from 17 studies. See in: genome view
Overlapping variant regions from other studies: 83 SVs from 17 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 |
---|---|---|---|---|---|---|---|---|---|
nsv6310233 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 70,175,040 | 70,176,323 |
nsv6310233 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 68,171,181 | 68,172,464 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
---|---|---|---|---|---|---|---|
nssv17973354 | duplication | Multiple | Multiple | ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS; Andersen Tawil syndrome; Andersen-Tawil Syndrome; Andersen-Tawil syndrome; Familial short QT syndrome; SHORT QT SYNDROME 3; SQT3; Short QT syndrome 3 | Uncertain significance | ClinVar | RCV002014368.2, VCV001511120.2 |
nssv18791475 | deletion | Multiple | Multiple | ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS; Andersen Tawil syndrome; Andersen-Tawil Syndrome; Andersen-Tawil syndrome; Familial short QT syndrome; SHORT QT SYNDROME 3; SQT3; Short QT syndrome 3 | Uncertain significance | ClinVar | RCV003105370.2, VCV002423433.2 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv17973354 | Remapped | Perfect | NC_000017.11:g.(?_ 70175040)_(7017632 3_?)dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 70,175,040 | 70,176,323 |
nssv18791475 | Remapped | Perfect | NC_000017.11:g.(?_ 70175040)_(7017632 3_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 70,175,040 | 70,176,323 |
nssv17973354 | Submitted genomic | NC_000017.10:g.(?_ 68171181)_(6817246 4_?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 68,171,181 | 68,172,464 | ||
nssv18791475 | Submitted genomic | NC_000017.10:g.(?_ 68171181)_(6817246 4_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 68,171,181 | 68,172,464 |
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 |
---|---|---|---|---|---|---|---|
nssv17973354 | GRCh37: NC_000017.10:g.(?_68171181)_(68172464_?)dup | duplication | germline | ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS; Andersen Tawil syndrome; Andersen-Tawil Syndrome; Andersen-Tawil syndrome; Familial short QT syndrome; SHORT QT SYNDROME 3; SQT3; Short QT syndrome 3 | Uncertain significance | ClinVar | RCV002014368.2, VCV001511120.2 |
nssv18791475 | GRCh37: NC_000017.10:g.(?_68171181)_(68172464_?)del | deletion | germline | ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS; Andersen Tawil syndrome; Andersen-Tawil Syndrome; Andersen-Tawil syndrome; Familial short QT syndrome; SHORT QT SYNDROME 3; SQT3; Short QT syndrome 3 | Uncertain significance | ClinVar | RCV003105370.2, VCV002423433.2 |