nsv3914774
- 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:658,643
- Description:GRCh38/hg38 17q12(chr17:39036037-39694679)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: 2254 SVs from 81 studies. See in: genome view
Overlapping variant regions from other studies: 2255 SVs from 81 studies. See in: genome view
Overlapping variant regions from other studies: 478 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 |
|---|---|---|---|---|---|---|---|
| nsv3914774 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000017.11 | Chr17 | 39,036,037 | 39,694,679 |
| nsv3914774 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 37,192,290 | 37,850,932 |
| nsv3914774 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000017.9 | Chr17 | 34,445,816 | 35,104,458 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15137755 | copy number gain | Multiple | Multiple | See cases | Likely benign | ClinVar | RCV000140753.5, VCV000152111.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15137755 | Submitted genomic | NC_000017.11:g.(?_ 39036037)_(3969467 9_?)dup | GRCh38 (hg38) | NC_000017.11 | Chr17 | 39,036,037 | 39,694,679 |
| nssv15137755 | Submitted genomic | NC_000017.10:g.(?_ 37192290)_(3785093 2_?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 37,192,290 | 37,850,932 |
| nssv15137755 | Submitted genomic | NC_000017.9:g.(?_3 4445816)_(35104458 _?)dup | NCBI36 (hg18) | NC_000017.9 | Chr17 | 34,445,816 | 35,104,458 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15137755 | GRCh37: NC_000017.10:g.(?_37192290)_(37850932_?)dup, GRCh38: NC_000017.11:g.(?_39036037)_(39694679_?)dup, NCBI36: NC_000017.9:g.(?_34445816)_(35104458_?)dup | copy number gain | maternal | See cases | Likely benign | ClinVar | RCV000140753.5, VCV000152111.2 | 3 |