nsv4683977
- 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:186
- Description:NC_000013.11:g.(?_76995053)_(76995238_?)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: 105 SVs from 18 studies. See in: genome view
Overlapping variant regions from other studies: 105 SVs from 18 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 |
---|---|---|---|---|---|---|---|---|---|
nsv4683977 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000013.11 | Chr13 | 76,995,053 | 76,995,238 |
nsv4683977 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000013.10 | Chr13 | 77,569,188 | 77,569,373 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
---|---|---|---|---|---|---|---|
nssv16214816 | duplication | Multiple | Multiple | Ceroid lipofuscinoses; Infantile neuronal ceroid lipofuscinosis; Neuronal ceroid lipofuscinosis | Likely pathogenic | ClinVar | RCV001033119.3, VCV000832645.3 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16214816 | Remapped | Perfect | NC_000013.11:g.(?_ 76995053)_(7699523 8_?)dup | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 76,995,053 | 76,995,238 |
nssv16214816 | Submitted genomic | NC_000013.10:g.(?_ 77569188)_(7756937 3_?)dup | GRCh37 (hg19) | NC_000013.10 | Chr13 | 77,569,188 | 77,569,373 |
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 |
---|---|---|---|---|---|---|---|
nssv16214816 | GRCh37: NC_000013.10:g.(?_77569188)_(77569373_?)dup | duplication | germline | Ceroid lipofuscinoses; Infantile neuronal ceroid lipofuscinosis; Neuronal ceroid lipofuscinosis | Likely pathogenic | ClinVar | RCV001033119.3, VCV000832645.3 |