nsv3924188
- 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:2,091,710
- Description:GRCh38/hg38 17p11.2(chr17:16879232-18970941)x3 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: 5940 SVs from 116 studies. See in: genome view
Overlapping variant regions from other studies: 5940 SVs from 116 studies. See in: genome view
Overlapping variant regions from other studies: 1430 SVs from 32 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3924188 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000017.11 | Chr17 | 16,879,232 | 18,970,941 |
| nsv3924188 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 16,782,546 | 18,874,254 |
| nsv3924188 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000017.9 | Chr17 | 16,723,271 | 18,814,979 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15132073 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000050888.4, VCV000057224.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15132073 | Submitted genomic | NC_000017.11:g.(?_ 16879232)_(1897094 1_?)dup | GRCh38 (hg38) | NC_000017.11 | Chr17 | 16,879,232 | 18,970,941 |
| nssv15132073 | Submitted genomic | NC_000017.10:g.(?_ 16782546)_(1887425 4_?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 16,782,546 | 18,874,254 |
| nssv15132073 | Submitted genomic | NC_000017.9:g.(?_1 6723271)_(18814979 _?)dup | NCBI36 (hg18) | NC_000017.9 | Chr17 | 16,723,271 | 18,814,979 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15132073 | GRCh37: NC_000017.10:g.(?_16782546)_(18874254_?)dup, GRCh38: NC_000017.11:g.(?_16879232)_(18970941_?)dup, NCBI36: NC_000017.9:g.(?_16723271)_(18814979_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000050888.4, VCV000057224.1 | 3 |