nsv3910227
- 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:17,005
- Description:GRCh38/hg38 16p13.11(chr16:15937798-15954802)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: 453 SVs from 64 studies. See in: genome view
Overlapping variant regions from other studies: 453 SVs from 64 studies. See in: genome view
Overlapping variant regions from other studies: 197 SVs from 19 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3910227 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000016.10 | Chr16 | 15,937,798 | 15,954,802 |
| nsv3910227 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000016.9 | Chr16 | 16,031,655 | 16,048,659 |
| nsv3910227 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000016.8 | Chr16 | 15,939,156 | 15,956,160 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15121289 | copy number gain | Multiple | Multiple | See cases | Likely benign | ClinVar | RCV000140343.3, VCV000151639.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15121289 | Submitted genomic | NC_000016.10:g.(?_ 15937798)_(1595480 2_?)dup | GRCh38 (hg38) | NC_000016.10 | Chr16 | 15,937,798 | 15,954,802 |
| nssv15121289 | Submitted genomic | NC_000016.9:g.(?_1 6031655)_(16048659 _?)dup | GRCh37 (hg19) | NC_000016.9 | Chr16 | 16,031,655 | 16,048,659 |
| nssv15121289 | Submitted genomic | NC_000016.8:g.(?_1 5939156)_(15956160 _?)dup | NCBI36 (hg18) | NC_000016.8 | Chr16 | 15,939,156 | 15,956,160 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15121289 | GRCh37: NC_000016.9:g.(?_16031655)_(16048659_?)dup, GRCh38: NC_000016.10:g.(?_15937798)_(15954802_?)dup, NCBI36: NC_000016.8:g.(?_15939156)_(15956160_?)dup | copy number gain | not provided | See cases | Likely benign | ClinVar | RCV000140343.3, VCV000151639.1 | 3 |