nsv7095879
- 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:4,800,262
- Description:
See descriptions for individual calls in download files - Publication(s):Gregory et al. 2002, Gregory et al. 2013, Zerr et al. 2003
- ClinVar: RCV003110989.2
- ClinVar: RCV003122285.2
- ClinVar: VCV002422855.2
- GeneReviews: NBK1229
- GeneReviews: NBK1490
- MONDO: 0009319
- MONDO: 0011299
- MedGen: C0018523
- MedGen: C1864112
- OMIM: 234200
- OMIM: 603218
- Orphanet: 157850
- Orphanet: 157941
- PubMed: 20301407
- PubMed: 20301663
- PubMed: 23447832
- 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: 16181 SVs from 118 studies. See in: genome view
Overlapping variant regions from other studies: 16184 SVs from 118 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv7095879 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000020.11 | Chr20 | 1,979,293 | 6,779,554 |
| nsv7095879 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000020.10 | Chr20 | 1,959,939 | 6,760,201 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv18787296 | duplication | Multiple | Multiple | NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1; NBIA1; Pantothenate Kinase-Associated Neurodegeneration; Pantothenate kinase-associated neurodegeneration; Pigmentary pallidal degeneration | Uncertain significance | ClinVar | RCV003122285.2, VCV002422855.2 |
| nssv18788970 | duplication | Multiple | Multiple | Genetic Prion Disease; HUNTINGTON DISEASE-LIKE 1; HDL1; Huntington disease-like 1; Huntington disease-like 1 | Uncertain significance | ClinVar | RCV003110989.2, VCV002422855.2 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18787296 | Remapped | Perfect | NC_000020.11:g.(?_ 1979293)_(6779554_ ?)dup | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 1,979,293 | 6,779,554 |
| nssv18788970 | Remapped | Perfect | NC_000020.11:g.(?_ 1979293)_(6779554_ ?)dup | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 1,979,293 | 6,779,554 |
| nssv18787296 | Submitted genomic | NC_000020.10:g.(?_ 1959939)_(6760201_ ?)dup | GRCh37 (hg19) | NC_000020.10 | Chr20 | 1,959,939 | 6,760,201 | ||
| nssv18788970 | Submitted genomic | NC_000020.10:g.(?_ 1959939)_(6760201_ ?)dup | GRCh37 (hg19) | NC_000020.10 | Chr20 | 1,959,939 | 6,760,201 |
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 |
|---|---|---|---|---|---|---|---|
| nssv18787296 | GRCh37: NC_000020.10:g.(?_1959939)_(6760201_?)dup | duplication | germline | NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1; NBIA1; Pantothenate Kinase-Associated Neurodegeneration; Pantothenate kinase-associated neurodegeneration; Pigmentary pallidal degeneration | Uncertain significance | ClinVar | RCV003122285.2, VCV002422855.2 |
| nssv18788970 | GRCh37: NC_000020.10:g.(?_1959939)_(6760201_?)dup | duplication | germline | Genetic Prion Disease; HUNTINGTON DISEASE-LIKE 1; HDL1; Huntington disease-like 1; Huntington disease-like 1 | Uncertain significance | ClinVar | RCV003110989.2, VCV002422855.2 |