nsv3917777
- 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:7,292,382
- Description:GRCh38/hg38 17p13.3-13.1(chr17:198748-7491129)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: 35158 SVs from 127 studies. See in: genome view
Overlapping variant regions from other studies: 32728 SVs from 127 studies. See in: genome view
Overlapping variant regions from other studies: 7878 SVs from 35 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3917777 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000017.11 | Chr17 | 198,748 | 7,491,129 |
| nsv3917777 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 50,690 | 7,394,448 |
| nsv3917777 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000017.9 | Chr17 | 48,539 | 7,335,172 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15134135 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000134970.6, VCV000145642.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15134135 | Submitted genomic | NC_000017.11:g.(?_ 198748)_(7491129_? )dup | GRCh38 (hg38) | NC_000017.11 | Chr17 | 198,748 | 7,491,129 |
| nssv15134135 | Submitted genomic | NC_000017.10:g.(?_ 50690)_(7394448_?) dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 50,690 | 7,394,448 |
| nssv15134135 | Submitted genomic | NC_000017.9:g.(?_4 8539)_(7335172_?)d up | NCBI36 (hg18) | NC_000017.9 | Chr17 | 48,539 | 7,335,172 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15134135 | GRCh37: NC_000017.10:g.(?_50690)_(7394448_?)dup, GRCh38: NC_000017.11:g.(?_198748)_(7491129_?)dup, NCBI36: NC_000017.9:g.(?_48539)_(7335172_?)dup | copy number gain | maternal | See cases | Pathogenic | ClinVar | RCV000134970.6, VCV000145642.2 | 3 |