nsv3921665
- 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:711,326
- Description:GRCh38/hg38 16p11.2(chr16:29609368-30320693)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: 2268 SVs from 96 studies. See in: genome view
Overlapping variant regions from other studies: 2268 SVs from 96 studies. See in: genome view
Overlapping variant regions from other studies: 413 SVs from 25 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3921665 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000016.10 | Chr16 | 29,609,368 | 30,320,693 |
| nsv3921665 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000016.9 | Chr16 | 29,620,689 | 30,332,014 |
| nsv3921665 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000016.8 | Chr16 | 29,528,190 | 30,239,515 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15136933 | copy number gain | Multiple | Multiple | See cases | Likely pathogenic | ClinVar | RCV000139032.4, VCV000150136.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15136933 | Submitted genomic | NC_000016.10:g.(?_ 29609368)_(3032069 3_?)dup | GRCh38 (hg38) | NC_000016.10 | Chr16 | 29,609,368 | 30,320,693 |
| nssv15136933 | Submitted genomic | NC_000016.9:g.(?_2 9620689)_(30332014 _?)dup | GRCh37 (hg19) | NC_000016.9 | Chr16 | 29,620,689 | 30,332,014 |
| nssv15136933 | Submitted genomic | NC_000016.8:g.(?_2 9528190)_(30239515 _?)dup | NCBI36 (hg18) | NC_000016.8 | Chr16 | 29,528,190 | 30,239,515 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15136933 | GRCh37: NC_000016.9:g.(?_29620689)_(30332014_?)dup, GRCh38: NC_000016.10:g.(?_29609368)_(30320693_?)dup, NCBI36: NC_000016.8:g.(?_29528190)_(30239515_?)dup | copy number gain | not provided | See cases | Likely pathogenic | ClinVar | RCV000139032.4, VCV000150136.2 | 3 |