nsv7148248
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:1,206
- Description:GRCh38/hg38 4q28.2(chr4:127964562-127965767)x0 AND Neuronal ceroid lipofuscinosis 7
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 130 SVs from 28 studies. See in: genome view
Overlapping variant regions from other studies: 130 SVs from 28 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv7148248 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000004.12 | Chr4 | 127,964,562 | 127,965,767 | ||
| nsv7148248 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000004.11 | Chr4 | 128,885,717 | 128,886,922 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv18841915 | copy number loss | Multiple | Multiple | CEROID LIPOFUSCINOSIS, NEURONAL, 7; CLN7; CLN7 disease; Ceroid lipofuscinosis neuronal 7; Late infantile neuronal ceroid lipofuscinosis | Uncertain significance | ClinVar | RCV003327719.1, VCV002579280.1 | 0 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18841915 | Submitted genomic | NC_000004.12:g.127 964562_127965767de l | GRCh38 (hg38) | NC_000004.12 | Chr4 | 127,964,562 | 127,965,767 | ||
| nssv18841915 | Remapped | Perfect | NC_000004.11:g.128 885717_128886922de l | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 128,885,717 | 128,886,922 |
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 | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv18841915 | GRCh38: NC_000004.12:g.127964562_127965767del | copy number loss | unknown | CEROID LIPOFUSCINOSIS, NEURONAL, 7; CLN7; CLN7 disease; Ceroid lipofuscinosis neuronal 7; Late infantile neuronal ceroid lipofuscinosis | Uncertain significance | ClinVar | RCV003327719.1, VCV002579280.1 | 0 |