nsv7095330
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:5,659
- Description:
See descriptions for individual calls in download files - 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: 132 SVs from 36 studies. See in: genome view
Overlapping variant regions from other studies: 132 SVs from 36 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 |
---|---|---|---|---|---|---|---|---|---|
nsv7095330 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 3,476,160 | 3,481,818 |
nsv7095330 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 3,379,454 | 3,385,112 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
---|---|---|---|---|---|---|---|
nssv18791042 | deletion | Multiple | Multiple | CANAVAN DISEASE; Canavan Disease; Canavan disease; Spongy degeneration of central nervous system | Pathogenic | ClinVar | RCV003119149.2, VCV002422203.2 |
nssv18791044 | duplication | Multiple | Multiple | CANAVAN DISEASE; Canavan Disease; Canavan disease; Spongy degeneration of central nervous system | Uncertain significance | ClinVar | RCV003119151.2, VCV002422205.2 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv18791042 | Remapped | Perfect | NC_000017.11:g.(?_ 3476160)_(3481818_ ?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 3,476,160 | 3,481,818 |
nssv18791044 | Remapped | Perfect | NC_000017.11:g.(?_ 3476160)_(3481818_ ?)dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 3,476,160 | 3,481,818 |
nssv18791042 | Submitted genomic | NC_000017.10:g.(?_ 3379454)_(3385112_ ?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 3,379,454 | 3,385,112 | ||
nssv18791044 | Submitted genomic | NC_000017.10:g.(?_ 3379454)_(3385112_ ?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 3,379,454 | 3,385,112 |
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 |
---|---|---|---|---|---|---|---|
nssv18791042 | GRCh37: NC_000017.10:g.(?_3379454)_(3385112_?)del | deletion | germline | CANAVAN DISEASE; Canavan Disease; Canavan disease; Spongy degeneration of central nervous system | Pathogenic | ClinVar | RCV003119149.2, VCV002422203.2 |
nssv18791044 | GRCh37: NC_000017.10:g.(?_3379454)_(3385112_?)dup | duplication | germline | CANAVAN DISEASE; Canavan Disease; Canavan disease; Spongy degeneration of central nervous system | Uncertain significance | ClinVar | RCV003119151.2, VCV002422205.2 |