nsv4681827
- 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:2,353,140
- Description:NC_000011.9:g.(?_532616)_(2906985_?)dup AND Neuronal ceroid lipofuscinosis
- Publication(s):Jalanko et al. 2008
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 11487 SVs from 113 studies. See in: genome view
Overlapping variant regions from other studies: 11109 SVs from 113 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4681827 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 532,616 | 2,885,755 |
| nsv4681827 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 532,616 | 2,906,985 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv16212138 | duplication | Multiple | Multiple | Ceroid lipofuscinoses; Infantile neuronal ceroid lipofuscinosis; Neuronal ceroid lipofuscinosis | Uncertain significance | ClinVar | RCV001032557.1, VCV000832038.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16212138 | Remapped | Good | NC_000011.10:g.(?_ 532616)_(2885755_? )dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 532,616 | 2,885,755 |
| nssv16212138 | Submitted genomic | NC_000011.9:g.(?_5 32616)_(2906985_?) dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 532,616 | 2,906,985 |
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 |
|---|---|---|---|---|---|---|---|
| nssv16212138 | GRCh37: NC_000011.9:g.(?_532616)_(2906985_?)dup | duplication | germline | Ceroid lipofuscinoses; Infantile neuronal ceroid lipofuscinosis; Neuronal ceroid lipofuscinosis | Uncertain significance | ClinVar | RCV001032557.1, VCV000832038.1 |