nsv3918492
- 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:5,468,552
- Description:GRCh38/hg38 16p11.2-11.1(chr16:30691912-36160463)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: 19394 SVs from 132 studies. See in: genome view
Overlapping variant regions from other studies: 16912 SVs from 131 studies. See in: genome view
Overlapping variant regions from other studies: 6050 SVs from 38 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3918492 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000016.10 | Chr16 | 30,691,912 | 36,160,463 |
| nsv3918492 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000016.9 | Chr16 | 30,703,233 | 35,147,508 |
| nsv3918492 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000016.8 | Chr16 | 30,610,734 | 35,005,009 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15133058 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000133811.6, VCV000144329.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15133058 | Submitted genomic | NC_000016.10:g.(?_ 30691912)_(3616046 3_?)dup | GRCh38 (hg38) | NC_000016.10 | Chr16 | 30,691,912 | 36,160,463 |
| nssv15133058 | Submitted genomic | NC_000016.9:g.(?_3 0703233)_(35147508 _?)dup | GRCh37 (hg19) | NC_000016.9 | Chr16 | 30,703,233 | 35,147,508 |
| nssv15133058 | Submitted genomic | NC_000016.8:g.(?_3 0610734)_(35005009 _?)dup | NCBI36 (hg18) | NC_000016.8 | Chr16 | 30,610,734 | 35,005,009 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15133058 | GRCh37: NC_000016.9:g.(?_30703233)_(35147508_?)dup, GRCh38: NC_000016.10:g.(?_30691912)_(36160463_?)dup, NCBI36: NC_000016.8:g.(?_30610734)_(35005009_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000133811.6, VCV000144329.2 | 3 |