nsv3917492
- 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:17,653,615
- Description:GRCh38/hg38 16q21-23.3(chr16:65957829-83611443)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: 52081 SVs from 139 studies. See in: genome view
Overlapping variant regions from other studies: 52077 SVs from 139 studies. See in: genome view
Overlapping variant regions from other studies: 13158 SVs from 39 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3917492 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000016.10 | Chr16 | 65,957,829 | 83,611,443 |
| nsv3917492 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000016.9 | Chr16 | 65,991,732 | 83,645,048 |
| nsv3917492 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000016.8 | Chr16 | 64,549,233 | 82,202,549 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15146794 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000143742.5, VCV000155675.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15146794 | Submitted genomic | NC_000016.10:g.(?_ 65957829)_(8361144 3_?)dup | GRCh38 (hg38) | NC_000016.10 | Chr16 | 65,957,829 | 83,611,443 |
| nssv15146794 | Submitted genomic | NC_000016.9:g.(?_6 5991732)_(83645048 _?)dup | GRCh37 (hg19) | NC_000016.9 | Chr16 | 65,991,732 | 83,645,048 |
| nssv15146794 | Submitted genomic | NC_000016.8:g.(?_6 4549233)_(82202549 _?)dup | NCBI36 (hg18) | NC_000016.8 | Chr16 | 64,549,233 | 82,202,549 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15146794 | GRCh37: NC_000016.9:g.(?_65991732)_(83645048_?)dup, GRCh38: NC_000016.10:g.(?_65957829)_(83611443_?)dup, NCBI36: NC_000016.8:g.(?_64549233)_(82202549_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000143742.5, VCV000155675.2 | 3 |