nsv3924250
- 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:1,529,085
- Description:GRCh38/hg38 16p11.2(chr16:29909613-31438697)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: 4538 SVs from 102 studies. See in: genome view
Overlapping variant regions from other studies: 4538 SVs from 102 studies. See in: genome view
Overlapping variant regions from other studies: 949 SVs from 24 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3924250 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000016.10 | Chr16 | 29,909,613 | 31,438,697 |
| nsv3924250 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000016.9 | Chr16 | 29,920,934 | 31,450,018 |
| nsv3924250 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000016.8 | Chr16 | 29,828,435 | 31,357,519 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15133902 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000135339.3, VCV000146013.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15133902 | Submitted genomic | NC_000016.10:g.(?_ 29909613)_(3143869 7_?)dup | GRCh38 (hg38) | NC_000016.10 | Chr16 | 29,909,613 | 31,438,697 |
| nssv15133902 | Submitted genomic | NC_000016.9:g.(?_2 9920934)_(31450018 _?)dup | GRCh37 (hg19) | NC_000016.9 | Chr16 | 29,920,934 | 31,450,018 |
| nssv15133902 | Submitted genomic | NC_000016.8:g.(?_2 9828435)_(31357519 _?)dup | NCBI36 (hg18) | NC_000016.8 | Chr16 | 29,828,435 | 31,357,519 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15133902 | GRCh37: NC_000016.9:g.(?_29920934)_(31450018_?)dup, GRCh38: NC_000016.10:g.(?_29909613)_(31438697_?)dup, NCBI36: NC_000016.8:g.(?_29828435)_(31357519_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000135339.3, VCV000146013.1 | 3 |