nsv7098688
- 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:186
- Description:NM_000049.4(ASPA):c.20_205del (p.Ala7_Leu69delinsVal) 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: 120 SVs from 29 studies. See in: genome view
Overlapping variant regions from other studies: 120 SVs from 29 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nsv7098688 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000017.11 | Chr17 | 3,476,179 | 3,476,364 |
| nsv7098688 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 3,379,473 | 3,379,658 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv18792357 | deletion | Multiple | Multiple | CANAVAN DISEASE; Canavan Disease; Canavan disease; Spongy degeneration of central nervous system | Pathogenic | ClinVar | RCV003121468.7, VCV002418719.34 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv18792357 | Submitted genomic | NC_000017.11:g.347 6179_3476364del | GRCh38 (hg38) | NC_000017.11 | Chr17 | 3,476,179 | 3,476,364 |
| nssv18792357 | Submitted genomic | NC_000017.10:g.337 9473_3379658del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 3,379,473 | 3,379,658 |
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 |
|---|---|---|---|---|---|---|---|
| nssv18792357 | GRCh37: NC_000017.10:g.3379473_3379658del, GRCh38: NC_000017.11:g.3476179_3476364del | deletion | germline | CANAVAN DISEASE; Canavan Disease; Canavan disease; Spongy degeneration of central nervous system | Pathogenic | ClinVar | RCV003121468.7, VCV002418719.34 |