nsv3923531
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38, NCBI36
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:957,330
- Description:GRCh38/hg38 17p13.1(chr17:7478195-8435524)x1 AND See cases
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 3438 SVs from 88 studies. See in: genome view
Overlapping variant regions from other studies: 3439 SVs from 88 studies. See in: genome view
Overlapping variant regions from other studies: 797 SVs from 18 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3923531 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000017.11 | Chr17 | 7,478,195 | 8,435,524 |
| nsv3923531 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 7,381,514 | 8,338,842 |
| nsv3923531 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000017.9 | Chr17 | 7,322,238 | 8,279,567 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15121241 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000053426.6, VCV000059583.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15121241 | Submitted genomic | NC_000017.11:g.(?_ 7478195)_(8435524_ ?)del | GRCh38 (hg38) | NC_000017.11 | Chr17 | 7,478,195 | 8,435,524 |
| nssv15121241 | Submitted genomic | NC_000017.10:g.(?_ 7381514)_(8338842_ ?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 7,381,514 | 8,338,842 |
| nssv15121241 | Submitted genomic | NC_000017.9:g.(?_7 322238)_(8279567_? )del | NCBI36 (hg18) | NC_000017.9 | Chr17 | 7,322,238 | 8,279,567 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15121241 | GRCh37: NC_000017.10:g.(?_7381514)_(8338842_?)del, GRCh38: NC_000017.11:g.(?_7478195)_(8435524_?)del, NCBI36: NC_000017.9:g.(?_7322238)_(8279567_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000053426.6, VCV000059583.1 | 1 |