nsv4453889
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:9,874
- Description:NC_000017.11:g.(?_3489225)_(3499098_?)del AND Spongy degeneration of central nervous system
- Publication(s):ACOG Committee on Genetics et al. 2009, Gross et al. 2008, Matalon et al. 1999
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 147 SVs from 36 studies. See in: genome view
Overlapping variant regions from other studies: 147 SVs from 36 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv4453889 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000017.11 | Chr17 | 3,489,225 | 3,499,098 |
| nsv4453889 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 3,392,519 | 3,402,392 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15771041 | deletion | Multiple | Multiple | CANAVAN DISEASE; Canavan Disease; Canavan disease; Spongy degeneration of central nervous system | Pathogenic | ClinVar | RCV000824672.1, VCV000666229.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15771041 | Submitted genomic | NC_000017.11:g.(?_ 3489225)_(3499098_ ?)del | GRCh38 (hg38) | NC_000017.11 | Chr17 | 3,489,225 | 3,499,098 |
| nssv15771041 | Submitted genomic | NC_000017.10:g.(?_ 3392519)_(3402392_ ?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 3,392,519 | 3,402,392 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15771041 | GRCh37: NC_000017.10:g.(?_3392519)_(3402392_?)del, GRCh38: NC_000017.11:g.(?_3489225)_(3499098_?)del | deletion | germline | CANAVAN DISEASE; Canavan Disease; Canavan disease; Spongy degeneration of central nervous system | Pathogenic | ClinVar | RCV000824672.1, VCV000666229.1 |