nsv3909986
- 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:621,273
- Description:GRCh38/hg38 17q11.2(chr17:28283125-28904397)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: 1823 SVs from 74 studies. See in: genome view
Overlapping variant regions from other studies: 1824 SVs from 74 studies. See in: genome view
Overlapping variant regions from other studies: 326 SVs from 15 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3909986 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000017.11 | Chr17 | 28,283,125 | 28,904,397 |
| nsv3909986 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 26,610,151 | 27,231,415 |
| nsv3909986 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000017.9 | Chr17 | 23,634,278 | 24,255,541 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15148086 | copy number gain | Multiple | Multiple | See cases | Benign | ClinVar | RCV000136494.4, VCV000147274.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15148086 | Submitted genomic | NC_000017.11:g.(?_ 28283125)_(2890439 7_?)dup | GRCh38 (hg38) | NC_000017.11 | Chr17 | 28,283,125 | 28,904,397 |
| nssv15148086 | Submitted genomic | NC_000017.10:g.(?_ 26610151)_(2723141 5_?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 26,610,151 | 27,231,415 |
| nssv15148086 | Submitted genomic | NC_000017.9:g.(?_2 3634278)_(24255541 _?)dup | NCBI36 (hg18) | NC_000017.9 | Chr17 | 23,634,278 | 24,255,541 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15148086 | GRCh37: NC_000017.10:g.(?_26610151)_(27231415_?)dup, GRCh38: NC_000017.11:g.(?_28283125)_(28904397_?)dup, NCBI36: NC_000017.9:g.(?_23634278)_(24255541_?)dup | copy number gain | not provided | See cases | Benign | ClinVar | RCV000136494.4, VCV000147274.2 | 3 |